gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37866655 (SAS)
Genomes Max Group AF
0.37866655 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48009982G>A , CM000674.2:g.48009982G>A | GRCh38 |
| NC_000012.11:g.48403765G>A , CM000674.1:g.48403765G>A | GRCh37 |
| NC_000012.10:g.46690032G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006719242.2:c.-122-3770C>T | XP_006719305.2:n.-122-3770C>T | |
| XM_011537928.1:c.-337+28C>T | XP_011536230.1:n.-337+28C>T | |
| XM_011537929.1:c.-336-457C>T | XP_011536231.1:n.-336-457C>T | |
| XM_011537930.1:c.-336-457C>T | XP_011536232.1:n.-336-457C>T | |
| XM_011537931.1:c.-122-3770C>T | XP_011536233.1:n.-122-3770C>T | |
| XM_011537932.1:c.-122-3770C>T | XP_011536234.1:n.-122-3770C>T | |
| XM_011537934.1:c.-337+28C>T | XP_011536236.1:n.-337+28C>T |