gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002826 (NFE)
Exomes Max Group AF
0.00002913 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24504922C>T , CM000668.2:g.24504922C>T | GRCh38 |
| NC_000006.11:g.24505150C>T , CM000668.1:g.24505150C>T | GRCh37 |
| NC_000006.10:g.24613129C>T | NCBI36 |
| NG_008161.1:g.14954C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.663C>T MANE Select | ENSP00000350191.3:p.Ala221= | |
| ENST00000672352.1:c.426C>T | ENSP00000500876.1:p.Ala142= | |
| ENST00000672557.1:c.581C>T | ||
| ENST00000672619.1:n.23C>T | ||
| ENST00000672652.1:c.584C>T | ||
| ENST00000675422.1:n.1423C>T | ||
| ENST00000348925.2:c.663C>T | ENSP00000314649.3:p.Ala221= | |
| ENST00000357578.7:c.663C>T | ENSP00000350191.3:p.Ala221= | |
| ENST00000491546.5:c.579C>T | ENSP00000417687.1:p.Ala193= | |
| NM_001080.3:c.663C>T MANE Select | NP_001071.1:p.Ala221= | |
| NM_170740.1:c.663C>T | NP_733936.1:p.Ala221= | |
| NM_001368954.1:c.663C>T | NP_001355883.1:p.Ala221= |