标准等位基因标识符:CA10620783号

链接的数据

ClinVar变量Id: 354210
ClinVar RCV Id: RCV000390818型
数据库SNP Id: 1580卢比
gnomAD v2: 5-76723969-T-A号
gnomAD v3: 5-77428144-T-A号
gnomAD v4: 5-77428144-T-A号

基因组等位基因

HGVS公司 基因组组装
NC_ 000005.10:g.77428144T>A,CM000667.2:g.774281144T>A GRCh38型
NC_00005.9:g.76723969T>A,CM000667.1:g.7672 3969T>A GRCh37型
NC_ 000005.8:g.76759725T>A NCBI36标准
NG_023364.1:g.222264T>A
NG_023364.2:g.252893T>A

成绩单等位基因

HGVS公司 氨基酸变化
ENST00000264917.10:c.*1590T>A(PDE8B) MANE选择 ENSP00000264917.6:编号*1590T>A
ENST00000264917.9:c.*1590T>A(PDE8B) ENSP00000264917.5:n.*1590T>A
ENST00000505283.1:c.*1590T>A(PDE8B) ENSP0000423461.1:编号*1590T>A
ENST00000508154.1:n.76-1110A>T(WDR41)
ENST00000512033.1:n.415-1110A>T(WDR41)
ENST00000514878.1:n.64-1110A>T(WDR41)
NM_001029851.2:c.*1590T>A(PDE8B) NP_001025022.1:编号*1590T>A
NM_001029852.2:c.*1590T>A(PDE8B) NP_001025023.1:编号*1590T>A
NM_001029853.2:c.*1590T>A(PDE8B) NP_001025024.1:编号*1590T>A
NM_001029854.2:c.*1590T>A(PDE8B) NP_001025025.1:编号*1590T>A
NM_003719.3:c.*1590T>A(PDE8B) NP_003710.1:编号*1590T>A
NM_001349748.1:c.*1590T>A(PDE8B) NP_001336677.1:编号*1590T>A
NM_001349749.1:c.*1590T>A(PDE8B) NP_001336678.1:编号*1590T>A
NM_001349750.1:c.*1590T>A(PDE8B) NP_001336679.1:编号*1590T>A
NM_001349751.1:c.*1676T>A(PDE8B) NP_001336680.1:编号*1676T>A
NM_001349752.1:c.*1590T>A(PDE8B) NP_001336681.1:n.*1590T>A
NM_001349753.1:c.*1590T>A(PDE8B) NP_001336682.1:编号*1590T>A
XM_005248623.4:c.*1590T>A(PDE8B) XP_005248680.1:编号*1590T>A
XM_006714726.3:c.*1590T>A(PDE8B) XP_006714789.1:编号*1590T>A
XM_011543704.2:c.*1590T>A(PDE8B) XP_011542006.1:编号*1590T>A
XM_024446253.1:c.*1590T>A(PDE8B) XP_024302021.1:编号*1590T>A
XR_001742140.1:n.1910-1110A>T(WDR41)
NM_001029851.4:c.*1590T>A(PDE8B) NP_001025022.1:编号*1590T>A
NM_001029852.4:c.*1590T>A(PDE8B) NP_001025023.1:编号*1590T>A
NM_001029853.4:c.*1590T>A(PDE8B) NP_001025024.1:编号*1590T>A
NM_001029854.4:c.*1590T>A(PDE8B) NP_001025025.1:编号*1590T>A
NM_001349748.3:c.*1590T>A(PDE8B) NP_001336677.1:编号*1590T>A
NM_001349749.3:c.*1590T>A(PDE8B) NP_001336678.1:编号*1590T>A
NM_001349750.3:c.*1590T>A(PDE8B) NP_001336679.1:编号*1590T>A
NM_001349751.3:c.*1676T>A(PDE8B) NP_001336680.1:编号*1676T>A
NM_001349752.3:c.*1590T>A(PDE8B) NP_001336681.1:编号*1590T>A
NM_001349753.2:c.*1590T>A(PDE8B) NP_001336682.1:n.*1590T>A
NM_001376062.1:c.*1590T>A(PDE8B) NP_001362991.1:编号*1590T>A
NM_001376063.1:c.*1590T>A(PDE8B) NP_001362992.1:编号*1590T>A
NM_001376064.1:c.*1590T>A(PDE8B) NP_001362993.1:编号*1590T>A
NM_001376065.1:c.*1590T>A(PDE8B) NP_001362994.1:编号*1590T>A
NM_001376066.1:c.*1590T>A(PDE8B) NP_001362995.1:编号*1590T>A
NM_001376067.1:c.*1590T>A(PDE8B) NP_001362996.1:编号*1590T>A
NM_001376068.1:c.*1590T>A(PDE8B) NP_001362997.1:编号*1590T>A
NM_001376069.1:c.*1590T>A(PDE8B) NP_001362998.1:编号*1590T>A
NM_001376070.1:c.*1590T>A(PDE8B) NP_001362999.1:编号*1590T>A
NM_001376071.1:c.*1590T>A(PDE8B) NP_001363000.1:编号*1590T>A
NM_001376072.1:c.*1676T>A(PDE8B) NP_001363001.1:编号*1676T>A
NM_001376073.1:c.*1590T>A(PDE8B) NP_001363002.1:编号*1590T>A
NM_001376074.1:c.*1590T>A(PDE8B) NP_001363003.1:编号*1590T>A
NM_001376075.1:c.*1590T>A(PDE8B) NP_001363004.1:编号*1590T>A
NM_003719.5:c.*1590T>A(PDE8B) MANE选择 NP_003710.1:编号*1590T>A