gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73349055 (AFR)
Genomes Max Group AF
0.73349055 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169681903G>A , CM000663.2:g.169681903G>A | GRCh38 |
| NC_000001.10:g.169651044G>A , CM000663.1:g.169651044G>A | GRCh37 |
| NC_000001.9:g.167917668G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498289.5:n.518-1566G>A | ||
| XR_001738282.1:n.274-1489G>A |