gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22875056 (AMR)
Genomes Max Group AF
0.22875056 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.102129717G>A , CM000665.2:g.102129717G>A | GRCh38 |
| NC_000003.11:g.101848561G>A , CM000665.1:g.101848561G>A | GRCh37 |
| NC_000003.10:g.103331251G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491959.5:c.-779+28146G>A | ENSP00000420265.1:n.-779+28146G>A |