gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65795312 (EAS)
Genomes Max Group AF
0.65795312 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.14466039A>G , CM000663.2:g.14466039A>G | GRCh38 |
| NC_000001.10:g.14792535A>G , CM000663.1:g.14792535A>G | GRCh37 |
| NC_000001.9:g.14665122A>G | NCBI36 |
| NG_029844.2:g.577654A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636203.1:c.250-132944A>G | ENSP00000490958.1:n.250-132944A>G | |
| XM_005245795.3:c.280-132944A>G | XP_005245852.1:n.280-132944A>G | |
| XM_011541074.1:c.280-132944A>G | XP_011539376.1:n.280-132944A>G | |
| XM_011541078.1:c.280-132944A>G | XP_011539380.1:n.280-132944A>G | |
| XM_011541079.1:c.280-132944A>G | XP_011539381.1:n.280-132944A>G | |
| XM_011541080.1:c.280-132944A>G | XP_011539382.1:n.280-132944A>G | |
| XM_005245795.5:c.280-132944A>G | XP_005245852.1:n.280-132944A>G | |
| XM_011541074.3:c.280-132944A>G | XP_011539376.1:n.280-132944A>G | |
| XM_011541080.3:c.280-132944A>G | XP_011539382.1:n.280-132944A>G | |
| XM_017000768.2:c.280-132944A>G | XP_016856257.1:n.280-132944A>G | |
| XM_017000769.2:c.280-132944A>G | XP_016856258.1:n.280-132944A>G | |
| XM_017000770.2:c.280-132944A>G | XP_016856259.1:n.280-132944A>G |