gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53567332 (AFR)
Genomes Max Group AF
0.53567332 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152746792G>A , CM000668.2:g.152746792G>A | GRCh38 |
| NC_000006.11:g.153067927G>A , CM000668.1:g.153067927G>A | GRCh37 |
| NC_000006.10:g.153109620G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942593.1:n.2219G>A | ||
| XM_011536152.3:c.*1661G>A | XP_011534454.1:n.*1661G>A | |
| XM_017011319.2:c.*1503G>A | XP_016866808.1:n.*1503G>A |