gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64055221 (EAS)
Genomes Max Group AF
0.64055221 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.53051646A>G , CM000675.2:g.53051646A>G | GRCh38 |
| NC_000013.10:g.53625781A>G , CM000675.1:g.53625781A>G | GRCh37 |
| NC_000013.9:g.52523782A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219022.3:c.*875A>G MANE Select | ENSP00000219022.2:n.*875A>G | |
| ENST00000219022.2:c.*875A>G | ENSP00000219022.2:n.*875A>G | |
| NM_006418.4:c.*875A>G | NP_006409.3:n.*875A>G | |
| NM_006418.5:c.*875A>G MANE Select | NP_006409.3:n.*875A>G |