gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66841355 (EAS)
Genomes Max Group AF
0.66841355 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.107454484C>T , CM000663.2:g.107454484C>T | GRCh38 |
| NC_000001.10:g.107997106C>T , CM000663.1:g.107997106C>T | GRCh37 |
| NC_000001.9:g.107798629C>T | NCBI36 |
| NG_042821.1:g.319567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370068.6:c.1390+17685C>T MANE Select | ENSP00000359085.1:n.1390+17685C>T | |
| ENST00000370065.1:c.1255+23567C>T | ENSP00000359082.1:n.1255+23567C>T | |
| ENST00000370066.5:c.1214-26127C>T | ENSP00000359083.1:n.1214-26127C>T | |
| ENST00000370067.5:c.1154-26127C>T | ENSP00000359084.1:n.1154-26127C>T | |
| ENST00000370068.5:c.1390+17685C>T | ENSP00000359085.1:n.1390+17685C>T | |
| ENST00000370071.6:c.1214-26127C>T | ENSP00000359088.2:n.1214-26127C>T | |
| ENST00000370073.6:c.1390+17685C>T | ENSP00000359090.2:n.1390+17685C>T | |
| ENST00000370074.8:c.1088-26127C>T | ENSP00000359091.3:n.1088-26127C>T | |
| NM_001113226.1:c.1390+17685C>T | NP_001106697.1:n.1390+17685C>T | |
| NM_001113226.2:c.1390+17685C>T | NP_001106697.1:n.1390+17685C>T | |
| NM_001113228.1:c.1214-26127C>T | NP_001106699.1:n.1214-26127C>T | |
| NM_001113228.2:c.1214-26127C>T | NP_001106699.1:n.1214-26127C>T | |
| NM_001312688.1:c.1288+17685C>T | NP_001299617.1:n.1288+17685C>T | |
| NM_014917.2:c.1088-26127C>T | NP_055732.2:n.1088-26127C>T | |
| NM_014917.3:c.1088-26127C>T | NP_055732.2:n.1088-26127C>T | |
| XM_006710455.2:c.1214-26127C>T | XP_006710518.1:n.1214-26127C>T | |
| XM_006710456.2:c.1088-26127C>T | XP_006710519.1:n.1088-26127C>T | |
| XM_006710457.2:c.915-26127C>T | XP_006710520.1:n.915-26127C>T | |
| XM_011541021.1:c.1390+17685C>T | XP_011539323.1:n.1390+17685C>T | |
| XM_011541022.1:c.1348+17685C>T | XP_011539324.1:n.1348+17685C>T | |
| XM_011541024.1:c.1154-26127C>T | XP_011539326.1:n.1154-26127C>T | |
| NM_001330665.1:c.1154-26127C>T | NP_001317594.1:n.1154-26127C>T | |
| XM_006710455.3:c.1214-26127C>T | XP_006710518.1:n.1214-26127C>T | |
| XM_006710456.4:c.1088-26127C>T | XP_006710519.1:n.1088-26127C>T | |
| XM_011541021.2:c.1390+17685C>T | XP_011539323.1:n.1390+17685C>T | |
| XM_017000680.2:c.1390+17685C>T | XP_016856169.1:n.1390+17685C>T | |
| XM_017000681.2:c.1390+17685C>T | XP_016856170.1:n.1390+17685C>T | |
| XM_017000682.2:c.1222+17685C>T | XP_016856171.1:n.1222+17685C>T | |
| XM_017000683.2:c.1214-26127C>T | XP_016856172.1:n.1214-26127C>T | |
| NM_001113226.3:c.1390+17685C>T MANE Select | NP_001106697.1:n.1390+17685C>T | |
| NM_001113228.3:c.1214-26127C>T | NP_001106699.1:n.1214-26127C>T | |
| NM_001312688.2:c.1288+17685C>T | NP_001299617.1:n.1288+17685C>T | |
| NM_001330665.2:c.1154-26127C>T | NP_001317594.1:n.1154-26127C>T | |
| NM_001372166.1:c.1222+17685C>T | NP_001359095.1:n.1222+17685C>T | |
| NM_001372167.1:c.1390+17685C>T | NP_001359096.1:n.1390+17685C>T | |
| NM_001372168.1:c.1088-26127C>T | NP_001359097.1:n.1088-26127C>T | |
| NM_001372169.1:c.1214-26127C>T | NP_001359098.1:n.1214-26127C>T | |
| NM_001372170.1:c.1390+17685C>T | NP_001359099.1:n.1390+17685C>T | |
| NM_001372171.1:c.1088-26127C>T | NP_001359100.1:n.1088-26127C>T | |
| NM_014917.4:c.1088-26127C>T | NP_055732.2:n.1088-26127C>T |