Linked Data
ClinVar Variation Id:
1449601
ClinVar RCV Id:
RCV002014551
dbSNP Id:
rs370045696
ExAC:
1:120279766 C / A
gnomAD v2:
1-120279766-C-A
gnomAD v3:
1-119737143-C-A
gnomAD v4:
1-119737143-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119737143C>A , CM000663.2:g.119737143C>A | GRCh38 |
| NC_000001.10:g.120279766C>A , CM000663.1:g.120279766C>A | GRCh37 |
| NC_000001.9:g.120081289C>A | NCBI36 |
| NG_009188.1:g.30348C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.822C>A | ENSP00000358417.5:p.Asp274Glu | |
| ENST00000469443.2:n.642C>A | ||
| ENST00000641023.2:c.822C>A MANE Select | ENSP00000493175.1:p.Asp274Glu | |
| ENST00000641074.1:c.822C>A | ENSP00000493446.1:p.Asp274Glu | |
| ENST00000641115.1:c.822C>A | ENSP00000493264.1:p.Asp274Glu | |
| ENST00000641213.1:c.*475C>A | ENSP00000493079.1:n.*475C>A | |
| ENST00000641314.1:n.807C>A | ||
| ENST00000641375.1:c.*658C>A | ENSP00000493089.1:n.*658C>A | |
| ENST00000641597.1:c.822C>A | ENSP00000493382.1:p.Asp274Glu | |
| ENST00000641756.1:c.*566C>A | ENSP00000493147.1:n.*566C>A | |
| ENST00000641811.1:c.578C>A | ||
| ENST00000641891.1:c.*648C>A | ENSP00000493288.1:n.*648C>A | |
| ENST00000641927.1:n.762C>A | ||
| ENST00000641947.1:c.822C>A | ENSP00000492994.1:p.Asp274Glu | |
| ENST00000642021.1:n.944C>A | ||
| ENST00000369407.3:c.720C>A | ENSP00000358415.3:p.Asp240Glu | |
| ENST00000369409.8:c.822C>A | ENSP00000358417.4:p.Asp274Glu | |
| NM_006623.3:c.822C>A | NP_006614.2:p.Asp274Glu | |
| XM_011541226.1:c.1044C>A | XP_011539528.1:p.Asp348Glu | |
| XM_011541227.1:c.966C>A | XP_011539529.1:p.Asp322Glu | |
| XM_011541228.1:c.933C>A | XP_011539530.1:p.Asp311Glu | |
| XM_011541229.1:c.759C>A | XP_011539531.1:p.Asp253Glu | |
| XM_011541230.1:c.537C>A | XP_011539532.1:p.Asp179Glu | |
| XM_011541231.1:c.528C>A | XP_011539533.1:p.Asp176Glu | |
| XM_011541226.2:c.1044C>A | XP_011539528.1:p.Asp348Glu | |
| XM_011541227.2:c.966C>A | XP_011539529.1:p.Asp322Glu | |
| XM_011541228.2:c.933C>A | XP_011539530.1:p.Asp311Glu | |
| XM_011541231.2:c.528C>A | XP_011539533.1:p.Asp176Glu | |
| XM_024446338.1:c.933C>A | XP_024302106.1:p.Asp311Glu | |
| NM_006623.4:c.822C>A MANE Select | NP_006614.2:p.Asp274Glu |