gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02238353 (NFE)
Genomes Max Group AF
0.0234524 (NFE)
Exomes Max Group AF
0.02126247 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7581813A>G , CM000679.2:g.7581813A>G | GRCh38 |
| NC_000017.10:g.7485131A>G , CM000679.1:g.7485131A>G | GRCh37 |
| NC_000017.9:g.7425855A>G | NCBI36 |
| NG_009204.1:g.3167A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250092.11:c.*302A>G MANE Select | ENSP00000250092.6:n.*302A>G | |
| ENST00000250092.10:c.*302A>G | ENSP00000250092.6:n.*302A>G | |
| ENST00000380498.10:c.*302A>G | ENSP00000369867.6:n.*302A>G | |
| NM_001040059.1:c.*302A>G | NP_001035148.1:n.*302A>G | |
| NM_001251.2:c.*302A>G | NP_001242.2:n.*302A>G | |
| NM_001251.3:c.*302A>G MANE Select | NP_001242.2:n.*302A>G | |
| NM_001040059.2:c.*302A>G | NP_001035148.1:n.*302A>G |