gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59487039 (AFR)
Genomes Max Group AF
0.59487039 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26472746G>A , CM000677.2:g.26472746G>A | GRCh38 |
| NC_000015.9:g.26717893G>A , CM000677.1:g.26717893G>A | GRCh37 |
| NC_000015.8:g.24268986G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932009.1:n.186-1649C>T | ||
| XR_932010.1:n.186-1649C>T | ||
| XR_001751453.1:n.2717-16766G>A | ||
| XR_001751456.1:n.419-1649C>T | ||
| XR_001751457.1:n.419-1649C>T | ||
| XR_001751458.1:n.419-1649C>T | ||
| XR_001751459.1:n.419-1649C>T |