gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41413355 (EAS)
Genomes Max Group AF
0.42087375 (EAS)
Exomes Max Group AF
0.39301038 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99536106A>G , CM000672.2:g.99536106A>G | GRCh38 |
| NC_000010.10:g.101295863A>G , CM000672.1:g.101295863A>G | GRCh37 |
| NC_000010.9:g.101285853A>G | NCBI36 |
| NG_016854.1:g.8174A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344586.9:c.*385A>G MANE Select | ENSP00000342828.7:n.*385A>G | |
| ENST00000344586.8:c.*385A>G | ENSP00000342828.7:n.*385A>G | |
| ENST00000622383.1:c.*501A>G | ENSP00000479692.1:n.*501A>G | |
| NM_145285.2:c.*385A>G | NP_660328.2:n.*385A>G | |
| NM_145285.3:c.*385A>G MANE Select | NP_660328.2:n.*385A>G |