gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34969353 (AFR)
Genomes Max Group AF
0.34902546 (AFR)
Exomes Max Group AF
0.34352208 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.32734466A>T , CM000677.2:g.32734466A>T | GRCh38 |
| NC_000015.9:g.33026667A>T , CM000677.1:g.33026667A>T | GRCh37 |
| NC_000015.8:g.30813959A>T | NCBI36 |
| NG_033791.1:g.21463A>T | |
| NG_033791.2:g.21463A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651154.1:c.*3221A>T MANE Select | ENSP00000498748.1:n.*3221A>T | |
| ENST00000652365.1:c.*3221A>T | ENSP00000498763.1:n.*3221A>T | |
| ENST00000622074.1:c.*3221A>T | ENSP00000478319.1:n.*3221A>T | |
| NM_001191322.1:c.*3221A>T | NP_001178251.1:n.*3221A>T | |
| NM_001191323.1:c.*3221A>T | NP_001178252.1:n.*3221A>T | |
| NM_013372.6:c.*3221A>T | NP_037504.1:n.*3221A>T | |
| XM_005254301.1:c.*3221A>T | XP_005254358.1:n.*3221A>T | |
| XM_017022077.1:c.*3221A>T | XP_016877566.1:n.*3221A>T | |
| NM_013372.7:c.*3221A>T MANE Select | NP_037504.1:n.*3221A>T | |
| NM_001191322.2:c.*3221A>T | NP_001178251.1:n.*3221A>T | |
| NM_001191323.2:c.*3221A>T | NP_001178252.1:n.*3221A>T | |
| NM_001368719.1:c.*3221A>T | NP_001355648.1:n.*3221A>T |