gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10173137 (NFE)
Genomes Max Group AF
0.10173137 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30725416G>A , CM000675.2:g.30725416G>A | GRCh38 |
| NC_000013.10:g.31299553G>A , CM000675.1:g.31299553G>A | GRCh37 |
| NC_000013.9:g.30197553G>A | NCBI36 |
| NG_011963.2:g.16939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617770.4:c.117-10135G>A | ENSP00000479870.1:n.117-10135G>A | |
| NM_001204406.1:c.117-10135G>A | NP_001191335.1:n.117-10135G>A | |
| NM_001204406.2:c.117-10135G>A | NP_001191335.1:n.117-10135G>A |