Linked Data
ClinVar Variation Id:
475462
dbSNP Id:
rs185664269
ExAC:
1:3732862 C / A
gnomAD v2:
1-3732862-C-A
gnomAD v3:
1-3816298-C-A
gnomAD v4:
1-3816298-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3816298C>A , CM000663.2:g.3816298C>A | GRCh38 |
| NC_000001.10:g.3732862C>A , CM000663.1:g.3732862C>A | GRCh37 |
| NC_000001.9:g.3722722C>A | NCBI36 |
| NG_046726.1:g.45936G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378230.8:c.2644G>T MANE Select | ENSP00000367476.3:p.Ala882Ser | |
| ENST00000428079.6:c.2644G>T | ENSP00000394989.2:p.Ala882Ser | |
| ENST00000674544.1:c.2470G>T | ENSP00000502641.1:p.Ala824Ser | |
| ENST00000674558.1:c.2644G>T | ENSP00000501829.1:p.Ala882Ser | |
| ENST00000674623.1:c.2644G>T | ENSP00000501733.1:p.Ala882Ser | |
| ENST00000674879.1:n.3580G>T | ||
| ENST00000674985.1:c.*1502G>T | ENSP00000502482.1:n.*1502G>T | |
| ENST00000675108.1:c.*2712G>T | ENSP00000502131.1:n.*2712G>T | |
| ENST00000675200.1:c.*523G>T | ENSP00000502512.1:n.*523G>T | |
| ENST00000675334.1:n.2448G>T | ||
| ENST00000675375.1:c.2470G>T | ENSP00000502180.1:p.Ala824Ser | |
| ENST00000675666.1:c.2576G>T | ENSP00000502548.1:p.Gly859Val | |
| ENST00000675677.1:c.2446G>T | ENSP00000501944.1:p.Ala816Ser | |
| ENST00000675750.1:c.*1973G>T | ENSP00000502342.1:n.*1973G>T | |
| ENST00000675966.1:n.4316G>T | ||
| ENST00000676009.1:c.*393G>T | ENSP00000502246.1:n.*393G>T | |
| ENST00000676052.1:c.2662G>T | ENSP00000502793.1:p.Ala888Ser | |
| ENST00000378230.7:c.2644G>T | ENSP00000367476.3:p.Ala882Ser | |
| ENST00000438539.5:c.534G>T | ||
| ENST00000484420.1:n.161G>T | ||
| NM_014704.3:c.2644G>T | NP_055519.1:p.Ala882Ser | |
| XM_005244815.3:c.2752G>T | XP_005244872.1:p.Ala918Ser | |
| XM_011542473.1:c.2770G>T | XP_011540775.1:p.Ala924Ser | |
| XM_011542474.1:c.2662G>T | XP_011540776.1:p.Ala888Ser | |
| XM_011542475.1:c.2596G>T | XP_011540777.1:p.Ala866Ser | |
| XM_011542476.1:c.2572G>T | XP_011540778.1:p.Ala858Ser | |
| XM_011542477.1:c.2398G>T | XP_011540779.1:p.Ala800Ser | |
| XM_005244815.4:c.2752G>T | XP_005244872.1:p.Ala918Ser | |
| XM_011542474.3:c.2662G>T | XP_011540776.1:p.Ala888Ser | |
| XM_017002918.2:c.2470G>T | XP_016858407.1:p.Ala824Ser | |
| XM_017002919.2:c.2446G>T | XP_016858408.1:p.Ala816Ser | |
| XM_024451101.1:c.2770G>T | XP_024306869.1:p.Ala924Ser | |
| XM_024451102.1:c.2596G>T | XP_024306870.1:p.Ala866Ser | |
| XM_024451103.1:c.2578G>T | XP_024306871.1:p.Ala860Ser | |
| XM_024451104.1:c.2572G>T | XP_024306872.1:p.Ala858Ser | |
| XM_024451106.1:c.2398G>T | XP_024306874.1:p.Ala800Ser | |
| NM_014704.4:c.2644G>T MANE Select | NP_055519.1:p.Ala882Ser |