gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56940965G>T , CM000663.2:g.56940965G>T | GRCh38 |
| NC_000001.10:g.57406638G>T , CM000663.1:g.57406638G>T | GRCh37 |
| NC_000001.9:g.57179226G>T | NCBI36 |
| NG_007285.1:g.30051C>A , LRG_31:g.30051C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468990.2:c.*1123C>A | ENSP00000512215.1:n.*1123C>A | |
| ENST00000494324.2:c.*1387C>A | ENSP00000512216.1:n.*1387C>A | |
| ENST00000695842.1:c.1153C>A | ENSP00000512214.1:p.Arg385= | |
| ENST00000695843.1:c.*1123C>A | ENSP00000512217.1:n.*1123C>A | |
| ENST00000696164.1:c.1282C>A | ENSP00000512454.1:p.Arg428= | |
| ENST00000696165.1:c.*1123C>A | ENSP00000512455.1:n.*1123C>A | |
| ENST00000696166.1:c.*1123C>A | ENSP00000512456.1:n.*1123C>A | |
| ENST00000371237.9:c.1282C>A MANE Select | ENSP00000360281.4:p.Arg428= | |
| ENST00000371237.8:c.1282C>A | ENSP00000360281.4:p.Arg428= | |
| ENST00000535057.5:c.1096C>A | ENSP00000440113.1:p.Arg366= | |
| ENST00000543257.5:c.1126C>A | ENSP00000442548.1:p.Arg376= | |
| NM_000066.3:c.1282C>A | NP_000057.2:p.Arg428= | |
| NM_001278543.1:c.1126C>A | NP_001265472.1:p.Arg376= | |
| NM_001278544.1:c.1096C>A | NP_001265473.1:p.Arg366= | |
| XM_017002235.1:c.1282C>A | XP_016857724.1:p.Arg428= | |
| XR_001737397.1:n.1141C>A | ||
| NM_000066.4:c.1282C>A MANE Select | NP_000057.3:p.Arg428= | |
| NM_001278543.2:c.1126C>A | NP_001265472.2:p.Arg376= | |
| NM_001278544.2:c.1096C>A | NP_001265473.2:p.Arg366= |