gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90203866 (EAS)
Genomes Max Group AF
0.90203866 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32796330A>G , CM000682.2:g.32796330A>G | GRCh38 |
| NC_000020.10:g.31384136A>G , CM000682.1:g.31384136A>G | GRCh37 |
| NC_000020.9:g.30847797A>G | NCBI36 |
| NG_007290.1:g.38946A>G , LRG_56:g.38946A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*249-460A>G | ENSP00000512497.1:n.*249-460A>G | |
| ENST00000696232.1:c.1298-460A>G | ENSP00000512498.1:n.1298-460A>G | |
| ENST00000696233.1:c.1238-460A>G | ENSP00000512499.1:n.1238-460A>G | |
| ENST00000696235.1:c.967-482A>G | ENSP00000512500.1:n.967-482A>G | |
| ENST00000696236.1:c.*249-460A>G | ENSP00000512501.1:n.*249-460A>G | |
| ENST00000696238.1:c.1238-460A>G | ENSP00000512502.1:n.1238-460A>G | |
| ENST00000696239.1:c.1079-460A>G | ENSP00000512503.1:n.1079-460A>G | |
| ENST00000696241.1:n.587-460A>G | ||
| ENST00000696242.1:n.440-460A>G | ||
| ENST00000696243.1:n.162-460A>G | ||
| ENST00000201963.3:c.1274-460A>G | ENSP00000201963.3:n.1274-460A>G | |
| ENST00000328111.6:c.1298-460A>G MANE Select | ENSP00000328547.2:n.1298-460A>G | |
| ENST00000348286.6:c.1238-460A>G | ENSP00000337764.2:n.1238-460A>G | |
| ENST00000353855.6:c.1238-460A>G | ENSP00000313397.4:n.1238-460A>G | |
| ENST00000443239.7:c.1112-460A>G | ENSP00000403169.2:n.1112-460A>G | |
| ENST00000456297.6:c.1010-460A>G | ENSP00000412305.1:n.1010-460A>G | |
| NM_001207055.1:c.1112-460A>G | NP_001193984.1:n.1112-460A>G | |
| NM_001207056.1:c.1010-460A>G | NP_001193985.1:n.1010-460A>G | |
| NM_006892.3:c.1298-460A>G , LRG_56t1:c.1298-460A>G | NP_008823.1:n.1298-460A>G | |
| NM_175848.1:c.1238-460A>G | NP_787044.1:n.1238-460A>G | |
| NM_175849.1:c.1238-460A>G | NP_787045.1:n.1238-460A>G | |
| NM_175850.2:c.1274-460A>G | NP_787046.1:n.1274-460A>G | |
| XM_011528653.1:c.1274-460A>G | XP_011526955.1:n.1274-460A>G | |
| XM_011528654.1:c.1148-460A>G | XP_011526956.1:n.1148-460A>G | |
| XR_936510.1:n.1265-460A>G | ||
| XR_936511.1:n.1265-460A>G | ||
| XR_936512.1:n.1140-460A>G | ||
| XM_011528653.2:c.1274-460A>G | XP_011526955.1:n.1274-460A>G | |
| XM_011528654.2:c.1148-460A>G | XP_011526956.1:n.1148-460A>G | |
| XR_936510.2:n.1276-460A>G | ||
| XR_936511.2:n.1276-460A>G | ||
| XR_936512.2:n.1152-460A>G | ||
| NM_001207055.2:c.1112-460A>G | NP_001193984.1:n.1112-460A>G | |
| NM_001207056.2:c.1010-460A>G | NP_001193985.1:n.1010-460A>G | |
| NM_006892.4:c.1298-460A>G MANE Select | NP_008823.1:n.1298-460A>G | |
| NM_175848.2:c.1238-460A>G | NP_787044.1:n.1238-460A>G | |
| NM_175849.2:c.1238-460A>G | NP_787045.1:n.1238-460A>G | |
| NM_175850.3:c.1274-460A>G | NP_787046.1:n.1274-460A>G |