gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1123927 (EAS)
Genomes Max Group AF
0.10257717 (AFR)
Exomes Max Group AF
0.11306488 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40307478G>A , CM000663.2:g.40307478G>A | GRCh38 |
| NC_000001.10:g.40773150G>A , CM000663.1:g.40773150G>A | GRCh37 |
| NC_000001.9:g.40545737G>A | NCBI36 |
| NG_008031.1:g.14790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372748.8:c.976C>T MANE Select | ENSP00000361834.3:p.Gln326Ter | |
| ENST00000372748.7:c.976C>T | ENSP00000361834.3:p.Gln326Ter | |
| ENST00000482722.5:n.1279C>T | ||
| NM_001852.3:c.976C>T | NP_001843.1:p.Gln326Ter | |
| XM_006710365.2:c.976C>T | XP_006710428.1:p.Gln326Ter | |
| XM_011540714.1:c.988C>T | XP_011539016.1:p.Gln330Ter | |
| XM_011540715.1:c.706C>T | XP_011539017.1:p.Gln236Ter | |
| XM_011540716.1:c.706C>T | XP_011539018.1:p.Gln236Ter | |
| XM_011540717.1:c.433C>T | XP_011539019.1:p.Gln145Ter | |
| XM_011540718.1:c.988C>T | XP_011539020.1:p.Gln330Ter | |
| XM_006710365.3:c.976C>T | XP_006710428.1:p.Gln326Ter | |
| XM_011540715.2:c.706C>T | XP_011539017.1:p.Gln236Ter | |
| XM_011540716.2:c.706C>T | XP_011539018.1:p.Gln236Ter | |
| XM_011540717.2:c.433C>T | XP_011539019.1:p.Gln145Ter | |
| XM_017000332.1:c.988C>T | XP_016855821.1:p.Gln330Ter | |
| XM_017000333.1:c.694C>T | XP_016855822.1:p.Gln232Ter | |
| NM_001852.4:c.976C>T MANE Select | NP_001843.1:p.Gln326Ter |