gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Genomes Max Group AF
0.00006832 (EAS)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25720179G>A , CM000665.2:g.25720179G>A | GRCh38 |
| NC_000003.11:g.25761670G>A , CM000665.1:g.25761670G>A | GRCh37 |
| NC_000003.10:g.25736674G>A | NCBI36 |
| NG_034108.1:g.74861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280700.10:c.1624C>T MANE Select | ENSP00000280700.5:p.Arg542Ter | |
| ENST00000463611.2:c.*1715C>T | ENSP00000501918.1:n.*1715C>T | |
| ENST00000674841.1:n.1747C>T | ||
| ENST00000675178.1:n.885C>T | ||
| ENST00000675217.1:c.*997C>T | ENSP00000502195.1:n.*997C>T | |
| ENST00000675234.1:c.*1121C>T | ENSP00000502740.1:n.*1121C>T | |
| ENST00000675680.1:c.938C>T | ||
| ENST00000676225.1:c.1594C>T | ENSP00000501622.1:p.Arg532Ter | |
| ENST00000280699.13:c.1375C>T | ||
| ENST00000280700.9:c.1624C>T | ENSP00000280700.5:p.Arg542Ter | |
| ENST00000308710.9:c.1561C>T | ENSP00000307980.5:p.Arg521Ter | |
| ENST00000396649.7:c.1612-544C>T | ENSP00000379886.3:n.1612-544C>T | |
| ENST00000417874.6:c.1498C>T | ENSP00000389888.2:p.Arg500Ter | |
| ENST00000428257.5:c.1570C>T | ENSP00000387430.1:p.Arg524Ter | |
| ENST00000467224.5:n.312C>T | ||
| ENST00000489271.5:n.1431C>T | ||
| ENST00000493324.5:n.2527C>T | ||
| ENST00000496726.5:n.2674C>T | ||
| NM_001145293.1:c.1570C>T | NP_001138765.1:p.Arg524Ter | |
| NM_001145294.1:c.1498C>T | NP_001138766.1:p.Arg500Ter | |
| NM_001145295.1:c.1612-544C>T | NP_001138767.1:n.1612-544C>T | |
| NM_018297.3:c.1624C>T | NP_060767.2:p.Arg542Ter | |
| XM_005265316.1:c.1459C>T | XP_005265373.1:p.Arg487Ter | |
| XM_005265317.1:c.1447-544C>T | XP_005265374.1:n.1447-544C>T | |
| XM_011533944.1:c.1393C>T | XP_011532246.1:p.Arg465Ter | |
| XR_940470.1:n.1920C>T | ||
| XR_940471.1:n.1769C>T | ||
| XR_001740200.2:n.1604C>T | ||
| XR_002959548.1:n.1531C>T | ||
| XR_940471.2:n.1769C>T | ||
| NM_018297.4:c.1624C>T MANE Select | NP_060767.2:p.Arg542Ter | |
| NM_001145293.2:c.1570C>T | NP_001138765.1:p.Arg524Ter | |
| NM_001145294.2:c.1498C>T | NP_001138766.1:p.Arg500Ter | |
| NM_001145295.2:c.1612-544C>T | NP_001138767.1:n.1612-544C>T |