dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31576733 (MID)
Genomes Max Group AF
0.27585019 (AFR)
Exomes Max Group AF
0.31632383 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.913286C>T , CM000674.2:g.913286C>T | GRCh38 |
| NC_000012.11:g.1022452C>T , CM000674.1:g.1022452C>T | GRCh37 |
| NC_000012.10:g.892713C>T | NCBI36 |
| NG_007984.2:g.165228C>T | |
| NG_017078.1:g.41412G>A | |
| NG_007984.3:g.165228C>T | |
| NG_017078.2:g.81756G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358495.8:c.*105G>A MANE Select | ENSP00000351284.3:n.*105G>A | |
| ENST00000228345.9:n.1695G>A | ||
| ENST00000358495.7:c.*105G>A | ENSP00000351284.3:n.*105G>A | |
| ENST00000430095.6:c.*105G>A | ENSP00000387901.2:n.*105G>A | |
| ENST00000468231.5:c.*1148G>A | ENSP00000434703.1:n.*1148G>A | |
| ENST00000481052.5:n.1673G>A | ||
| ENST00000488642.6:n.1885G>A | ||
| ENST00000535376.5:n.756G>A | ||
| NM_001297419.1:c.*105G>A | NP_001284348.1:n.*105G>A | |
| NM_001297421.1:c.*105G>A | NP_001284350.1:n.*105G>A | |
| NM_134424.3:c.*105G>A | NP_602296.2:n.*105G>A | |
| NR_123713.1:n.1783G>A | ||
| XM_005253720.3:c.*105G>A | XP_005253777.1:n.*105G>A | |
| XM_005253721.2:c.*105G>A | XP_005253778.1:n.*105G>A | |
| XM_011520990.1:c.*105G>A | XP_011519292.1:n.*105G>A | |
| XM_011520991.1:c.*105G>A | XP_011519293.1:n.*105G>A | |
| XM_011520992.1:c.*105G>A | XP_011519294.1:n.*105G>A | |
| XM_011520995.1:c.*105G>A | XP_011519297.1:n.*105G>A | |
| XR_931521.1:n.1449G>A | ||
| XR_931522.1:n.1524G>A | ||
| XM_005253720.5:c.*105G>A | XP_005253777.1:n.*105G>A | |
| XM_011520990.2:c.*105G>A | XP_011519292.1:n.*105G>A | |
| XM_011520991.2:c.*105G>A | XP_011519293.1:n.*105G>A | |
| XM_011520995.3:c.*105G>A | XP_011519297.1:n.*105G>A | |
| XM_017019769.1:c.*105G>A | XP_016875258.1:n.*105G>A | |
| XM_017019770.1:c.*105G>A | XP_016875259.1:n.*105G>A | |
| XR_001748836.1:n.1504G>A | ||
| XR_001748837.1:n.1501G>A | ||
| XR_001748838.2:n.1603G>A | ||
| XR_001748839.1:n.1501G>A | ||
| XR_931522.2:n.1524G>A | ||
| NM_134424.4:c.*105G>A MANE Select | NP_602296.2:n.*105G>A | |
| NM_001297421.2:c.*105G>A | NP_001284350.1:n.*105G>A | |
| NR_123713.2:n.1755G>A |