gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83530073 (AFR)
Genomes Max Group AF
0.83530893 (AFR)
Exomes Max Group AF
0.66345644 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45303351A>G , CM000681.2:g.45303351A>G | GRCh38 |
| NC_000019.9:g.45806609A>G , CM000681.1:g.45806609A>G | GRCh37 |
| NC_000019.8:g.50498449A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262891.9:c.*641A>G MANE Select | ENSP00000262891.3:n.*641A>G | |
| ENST00000262891.8:c.*641A>G | ENSP00000262891.3:n.*641A>G | |
| ENST00000300843.8:c.*913A>G | ENSP00000300843.3:n.*913A>G | |
| ENST00000620044.4:c.*1279A>G | ENSP00000480702.1:n.*1279A>G | |
| ENST00000622871.1:c.*641A>G | ENSP00000484974.1:n.*641A>G | |
| NM_001199867.1:c.*641A>G | NP_001186796.1:n.*641A>G | |
| NM_031417.3:c.*913A>G | NP_113605.2:n.*913A>G | |
| XM_006723307.2:c.*641A>G | XP_006723370.1:n.*641A>G | |
| XM_006723307.4:c.*641A>G | XP_006723370.1:n.*641A>G | |
| NM_001199867.2:c.*641A>G MANE Select | NP_001186796.1:n.*641A>G | |
| NM_031417.4:c.*913A>G | NP_113605.2:n.*913A>G |