gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1411776 (EAS)
Genomes Max Group AF
0.13952232 (EAS)
Exomes Max Group AF
0.14044743 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127741008A>G , CM000670.2:g.127741008A>G | GRCh38 |
| NC_000008.10:g.128753254A>G , CM000670.1:g.128753254A>G | GRCh37 |
| NC_000008.9:g.128822436A>G | NCBI36 |
| NG_007161.1:g.9939A>G | |
| NG_007161.2:g.10575A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707113.1:c.*50A>G | ENSP00000516742.1:n.*50A>G | |
| ENST00000707114.1:c.*50A>G | ENSP00000516743.1:n.*50A>G | |
| ENST00000707115.1:c.*50A>G | ENSP00000516744.1:n.*50A>G | |
| ENST00000707116.1:c.*50A>G | ENSP00000516745.1:n.*50A>G | |
| ENST00000707117.1:n.1373A>G | ||
| ENST00000524013.2:c.*50A>G | ENSP00000430235.2:n.*50A>G | |
| ENST00000621592.8:c.*50A>G MANE Select | ENSP00000478887.2:n.*50A>G | |
| ENST00000651626.1:c.*50A>G | ENSP00000499182.1:n.*50A>G | |
| ENST00000652288.1:c.*50A>G | ENSP00000499105.1:n.*50A>G | |
| ENST00000377970.6:c.*50A>G | ENSP00000367207.3:n.*50A>G | |
| ENST00000524013.1:c.*50A>G | ENSP00000430235.1:n.*50A>G | |
| ENST00000613283.1:c.*50A>G | ENSP00000479618.1:n.*50A>G | |
| ENST00000621592.5:c.*50A>G | ENSP00000478887.1:n.*50A>G | |
| NM_002467.4:c.*50A>G | NP_002458.2:n.*50A>G | |
| NM_001354870.1:c.*50A>G | NP_001341799.1:n.*50A>G | |
| NM_002467.5:c.*50A>G | NP_002458.2:n.*50A>G | |
| NM_002467.6:c.*50A>G MANE Select | NP_002458.2:n.*50A>G |