gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29313147 (NFE)
Genomes Max Group AF
0.29150365 (NFE)
Exomes Max Group AF
0.29292151 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104274733A>G , CM000672.2:g.104274733A>G | GRCh38 |
| NC_000010.10:g.106034491A>G , CM000672.1:g.106034491A>G | GRCh37 |
| NC_000010.9:g.106024481A>G | NCBI36 |
| NG_023363.1:g.10861A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338595.7:c.-183A>G MANE Select | ENSP00000345023.1:n.-183A>G | |
| ENST00000338595.6:c.-183A>G | ENSP00000345023.1:n.-183A>G | |
| ENST00000450629.6:c.-183A>G | ENSP00000390986.2:n.-183A>G | |
| NM_001191013.1:c.-183A>G | NP_001177942.1:n.-183A>G | |
| NM_183239.1:c.-183A>G | NP_899062.1:n.-183A>G | |
| XM_006717624.2:c.-183A>G | XP_006717687.1:n.-183A>G | |
| XM_011539270.1:c.-183A>G | XP_011537572.1:n.-183A>G | |
| XM_011539271.1:c.-183A>G | XP_011537573.1:n.-183A>G | |
| XM_011539272.1:c.-183A>G | XP_011537574.1:n.-183A>G | |
| XM_011539273.1:c.-183A>G | XP_011537575.1:n.-183A>G | |
| XM_006717624.3:c.-183A>G | XP_006717687.1:n.-183A>G | |
| XM_011539270.3:c.-183A>G | XP_011537572.1:n.-183A>G | |
| XM_011539271.2:c.-183A>G | XP_011537573.1:n.-183A>G | |
| XM_011539272.3:c.-183A>G | XP_011537574.1:n.-183A>G | |
| XM_011539273.2:c.-183A>G | XP_011537575.1:n.-183A>G | |
| XM_017015670.2:c.-183A>G | XP_016871159.1:n.-183A>G | |
| XM_017015671.1:c.-183A>G | XP_016871160.1:n.-183A>G | |
| NM_183239.2:c.-183A>G MANE Select | NP_899062.1:n.-183A>G | |
| NM_001191013.2:c.-183A>G | NP_001177942.1:n.-183A>G |