gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43801602 (AFR)
Genomes Max Group AF
0.43801602 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30920697G>A , CM000679.2:g.30920697G>A | GRCh38 |
| NC_000017.10:g.29247715G>A , CM000679.1:g.29247715G>A | GRCh37 |
| NC_000017.9:g.26271841G>A | NCBI36 |
| NG_051975.1:g.3962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583688.1:n.302-1007G>A |