gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58553672 (EAS)
Genomes Max Group AF
0.58553672 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64897514G>A , CM000674.2:g.64897514G>A | GRCh38 |
| NC_000012.11:g.65291294G>A , CM000674.1:g.65291294G>A | GRCh37 |
| NC_000012.10:g.63577561G>A | NCBI36 |
| NG_027727.1:g.18741G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674281.1:c.*1471+12214G>A | ENSP00000501395.1:n.*1471+12214G>A | |
| NR_033988.1:n.93-3063G>A |