gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002254 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36089289C>A , CM000681.2:g.36089289C>A | GRCh38 |
| NC_000019.9:g.36580191C>A , CM000681.1:g.36580191C>A | GRCh37 |
| NC_000019.8:g.41272031C>A | NCBI36 |
| NG_028101.1:g.39409C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.1941C>A | ENSP00000270301.6:p.Cys647Ter | |
| ENST00000401500.7:c.1941C>A MANE Select | ENSP00000384792.1:p.Cys647Ter | |
| ENST00000587391.6:c.*631C>A | ENSP00000465525.1:n.*631C>A | |
| ENST00000679489.1:c.259C>A | ||
| ENST00000679682.1:c.1926C>A | ENSP00000506226.1:p.Cys642Ter | |
| ENST00000679714.1:c.1935C>A | ENSP00000506627.1:p.Cys645Ter | |
| ENST00000679757.1:c.1590C>A | ENSP00000505158.1:p.Cys530Ter | |
| ENST00000679858.1:c.*738C>A | ENSP00000505655.1:n.*738C>A | |
| ENST00000680377.1:c.391C>A | ||
| ENST00000680403.1:c.1941C>A | ENSP00000505677.1:p.Cys647Ter | |
| ENST00000680489.1:n.2264C>A | ||
| ENST00000680564.1:c.1941C>A | ENSP00000505582.1:p.Cys647Ter | |
| ENST00000680590.1:c.*340C>A | ENSP00000505350.1:n.*340C>A | |
| ENST00000680806.1:c.*770C>A | ENSP00000506418.1:n.*770C>A | |
| ENST00000680858.1:c.391C>A | ||
| ENST00000681302.1:c.391C>A | ||
| ENST00000681625.1:c.1926C>A | ENSP00000505555.1:p.Cys642Ter | |
| ENST00000270301.11:c.1941C>A | ENSP00000270301.6:p.Cys647Ter | |
| ENST00000401500.6:c.1941C>A | ENSP00000384792.1:p.Cys647Ter | |
| ENST00000587391.5:c.*631C>A | ENSP00000465525.1:n.*631C>A | |
| NM_001083961.1:c.1941C>A | NP_001077430.1:p.Cys647Ter | |
| NM_173636.4:c.1941C>A | NP_775907.4:p.Cys647Ter | |
| XM_005258809.2:c.1941C>A | XP_005258866.1:p.Cys647Ter | |
| XM_011526837.1:c.1926C>A | XP_011525139.1:p.Cys642Ter | |
| XM_011526838.1:c.1941C>A | XP_011525140.1:p.Cys647Ter | |
| XM_011526839.1:c.1590C>A | XP_011525141.1:p.Cys530Ter | |
| XM_011526840.1:c.933C>A | XP_011525142.1:p.Cys311Ter | |
| XM_011526841.1:c.519C>A | XP_011525143.1:p.Cys173Ter | |
| XM_011526842.1:c.372C>A | XP_011525144.1:p.Cys124Ter | |
| XM_011526840.2:c.933C>A | XP_011525142.1:p.Cys311Ter | |
| XM_011526841.2:c.519C>A | XP_011525143.1:p.Cys173Ter | |
| XM_017026665.1:c.1941C>A | XP_016882154.1:p.Cys647Ter | |
| XR_001753671.1:n.2032C>A | ||
| XR_001753672.1:n.2032C>A | ||
| NM_001083961.2:c.1941C>A MANE Select | NP_001077430.1:p.Cys647Ter | |
| NM_173636.5:c.1941C>A | NP_775907.4:p.Cys647Ter |