gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54588109 (AFR)
Genomes Max Group AF
0.54588109 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118964303C>A , CM000670.2:g.118964303C>A | GRCh38 |
| NC_000008.10:g.119976542C>A , CM000670.1:g.119976542C>A | GRCh37 |
| NC_000008.9:g.120045723C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005250756.2:c.-60+11925C>A | XP_005250813.1:n.-60+11925C>A | |
| NM_001324095.1:c.-324+11925C>A | NP_001311024.1:n.-324+11925C>A | |
| XM_005250756.3:c.-60+11925C>A | XP_005250813.1:n.-60+11925C>A | |
| NM_001324095.2:c.-324+11925C>A | NP_001311024.1:n.-324+11925C>A |