gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29007894 (AFR)
Genomes Max Group AF
0.28397088 (AFR)
Exomes Max Group AF
0.31029648 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.111077780G>A , CM000672.2:g.111077780G>A | GRCh38 |
| NC_000010.10:g.112837538G>A , CM000672.1:g.112837538G>A | GRCh37 |
| NC_000010.9:g.112827528G>A | NCBI36 |
| NG_012020.1:g.5749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280155.4:c.-217G>A MANE Select | ENSP00000280155.2:n.-217G>A | |
| ENST00000280155.3:c.-217G>A | ENSP00000280155.2:n.-217G>A | |
| NM_000681.3:c.-217G>A | NP_000672.3:n.-217G>A | |
| NM_000681.4:c.-217G>A MANE Select | NP_000672.3:n.-217G>A |