gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08799127 (MID)
Genomes Max Group AF
0.08353242 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159204097A>G , CM000663.2:g.159204097A>G | GRCh38 |
| NC_000001.10:g.159173887A>G , CM000663.1:g.159173887A>G | GRCh37 |
| NC_000001.9:g.157440511A>G | NCBI36 |
| NG_011626.1:g.4378A>G | |
| NG_011626.3:g.5085A>G | |
| NG_051933.1:g.37534A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537147.5:c.-679-184A>G | ENSP00000441985.1:n.-679-184A>G | |
| NM_002036.3:c.-863A>G | NP_002027.2:n.-863A>G |