gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2468979 (SAS)
Genomes Max Group AF
0.2468979 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14166306G>A , CM000665.2:g.14166306G>A | GRCh38 |
| NC_000003.11:g.14207806G>A , CM000665.1:g.14207806G>A | GRCh37 |
| NC_000003.10:g.14182810G>A | NCBI36 |
| NG_011763.1:g.17367C>T , LRG_472:g.17367C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.622-721C>T MANE Select | ENSP00000285021.8:n.622-721C>T | |
| ENST00000285021.11:c.622-721C>T | ENSP00000285021.7:n.622-721C>T | |
| ENST00000452172.1:n.387-721C>T | ||
| ENST00000455144.6:n.233-721C>T | ||
| ENST00000476581.6:c.*75-721C>T | ENSP00000424548.1:n.*75-721C>T | |
| ENST00000477324.6:n.100-721C>T | ||
| NM_004628.4:c.622-721C>T , LRG_472t1:c.622-721C>T | NP_004619.3:n.622-721C>T | |
| NR_027299.1:n.602-721C>T | ||
| XM_011534092.1:c.622-721C>T | XP_011532394.1:n.622-721C>T | |
| XM_011534093.1:c.622-721C>T | XP_011532395.1:n.622-721C>T | |
| NM_001354726.1:c.43-721C>T | NP_001341655.1:n.43-721C>T | |
| NM_001354727.1:c.622-721C>T | NP_001341656.1:n.622-721C>T | |
| NM_001354729.1:c.604-721C>T | NP_001341658.1:n.604-721C>T | |
| NM_001354730.1:c.622-721C>T | NP_001341659.1:n.622-721C>T | |
| NR_148950.1:n.726-721C>T | ||
| NR_148951.1:n.602-721C>T | ||
| XR_001740256.2:n.655-721C>T | ||
| XR_002959580.1:n.655-721C>T | ||
| XR_002959581.1:n.655-721C>T | ||
| NM_001354727.2:c.622-721C>T | NP_001341656.1:n.622-721C>T | |
| NM_004628.5:c.622-721C>T MANE Select | NP_004619.3:n.622-721C>T | |
| NR_148950.2:n.655-721C>T | ||
| NR_148951.2:n.531-721C>T | ||
| NM_001354726.2:c.43-721C>T | NP_001341655.1:n.43-721C>T | |
| NM_001354729.2:c.604-721C>T | NP_001341658.1:n.604-721C>T | |
| NM_001354730.2:c.622-721C>T | NP_001341659.1:n.622-721C>T |