Linked Data
ClinVar Variation Id:
297581
dbSNP Id:
rs61756137
ExAC:
1:52850306 G / A
gnomAD v2:
1-52850306-G-A
gnomAD v3:
1-52384634-G-A
gnomAD v4:
1-52384634-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52384634G>A , CM000663.2:g.52384634G>A | GRCh38 |
| NC_000001.10:g.52850306G>A , CM000663.1:g.52850306G>A | GRCh37 |
| NC_000001.9:g.52622894G>A | NCBI36 |
| NG_028251.1:g.24838C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371568.8:c.1671C>T MANE Select | ENSP00000360623.3:p.Ala557= | |
| ENST00000371566.1:c.1671C>T | ENSP00000360621.1:p.Ala557= | |
| ENST00000371568.7:c.1671C>T | ENSP00000360623.3:p.Ala557= | |
| NM_001190818.1:c.1671C>T | NP_001177747.1:p.Ala557= | |
| NM_001190819.1:c.1656C>T | NP_001177748.1:p.Ala552= | |
| NM_004153.3:c.1671C>T | NP_004144.2:p.Ala557= | |
| XM_011541527.1:c.591C>T | XP_011539829.1:p.Ala197= | |
| XM_011541527.3:c.591C>T | XP_011539829.1:p.Ala197= | |
| XM_017001388.2:c.1671C>T | XP_016856877.1:p.Ala557= | |
| XM_017001389.2:c.933C>T | XP_016856878.1:p.Ala311= | |
| NM_004153.4:c.1671C>T MANE Select | NP_004144.2:p.Ala557= | |
| NM_001190818.2:c.1671C>T | NP_001177747.1:p.Ala557= | |
| NM_001190819.2:c.1656C>T | NP_001177748.1:p.Ala552= |