gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67011741 (AMR)
Genomes Max Group AF
0.64687763 (AMR)
Exomes Max Group AF
0.67733313 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113391072T>C , CM000671.2:g.113391072T>C | GRCh38 |
| NC_000009.11:g.116153352T>C , CM000671.1:g.116153352T>C | GRCh37 |
| NC_000009.10:g.115193173T>C | NCBI36 |
| NG_008716.1:g.15267A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.262-139A>G MANE Select | ENSP00000386284.3:n.262-139A>G | |
| ENST00000409155.7:c.262-139A>G | ENSP00000386284.3:n.262-139A>G | |
| ENST00000448137.5:c.289-139A>G | ENSP00000392748.1:n.289-139A>G | |
| ENST00000464749.5:n.258-139A>G | ||
| ENST00000468504.5:n.384-139A>G | ||
| ENST00000482001.1:n.535-139A>G | ||
| ENST00000482847.5:n.535-139A>G | ||
| NM_000031.5:c.262-139A>G | NP_000022.3:n.262-139A>G | |
| XM_005251799.1:c.349-139A>G | XP_005251856.1:n.349-139A>G | |
| XM_011518363.1:c.388-139A>G | XP_011516665.1:n.388-139A>G | |
| XM_011518364.1:c.289-139A>G | XP_011516666.1:n.289-139A>G | |
| NM_001003945.2:c.349-139A>G | NP_001003945.1:n.349-139A>G | |
| NM_001317745.1:c.238-139A>G | NP_001304674.1:n.238-139A>G | |
| XM_011518364.2:c.289-139A>G | XP_011516666.1:n.289-139A>G | |
| XM_024447449.1:c.349-139A>G | XP_024303217.1:n.349-139A>G | |
| XR_002956764.1:n.762-139A>G | ||
| NM_000031.6:c.262-139A>G MANE Select | NP_000022.3:n.262-139A>G | |
| NM_001003945.3:c.349-139A>G | NP_001003945.1:n.349-139A>G | |
| NM_001317745.2:c.238-139A>G | NP_001304674.1:n.238-139A>G |