gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89934324 (EAS)
Genomes Max Group AF
0.90362944 (EAS)
Exomes Max Group AF
0.89019611 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32808730A>G , CM000682.2:g.32808730A>G | GRCh38 |
| NC_000020.10:g.31396536A>G , CM000682.1:g.31396536A>G | GRCh37 |
| NC_000020.9:g.30860197A>G | NCBI36 |
| NG_007290.1:g.51346A>G , LRG_56:g.51346A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*2340A>G | ENSP00000512497.1:n.*2340A>G | |
| ENST00000696232.1:c.*827A>G | ENSP00000512498.1:n.*827A>G | |
| ENST00000696233.1:c.*1943A>G | ENSP00000512499.1:n.*1943A>G | |
| ENST00000696238.1:c.*2132A>G | ENSP00000512502.1:n.*2132A>G | |
| ENST00000696245.1:n.1414A>G | ||
| ENST00000201963.3:c.*827A>G | ENSP00000201963.3:n.*827A>G | |
| ENST00000328111.6:c.*827A>G MANE Select | ENSP00000328547.2:n.*827A>G | |
| ENST00000348286.6:c.*827A>G | ENSP00000337764.2:n.*827A>G | |
| ENST00000353855.6:c.*827A>G | ENSP00000313397.4:n.*827A>G | |
| NM_001207055.1:c.*827A>G | NP_001193984.1:n.*827A>G | |
| NM_001207056.1:c.*827A>G | NP_001193985.1:n.*827A>G | |
| NM_006892.3:c.*827A>G , LRG_56t1:c.*827A>G | NP_008823.1:n.*827A>G | |
| NM_175848.1:c.*827A>G | NP_787044.1:n.*827A>G | |
| NM_175849.1:c.*827A>G | NP_787045.1:n.*827A>G | |
| NM_175850.2:c.*827A>G | NP_787046.1:n.*827A>G | |
| XM_011528653.1:c.*827A>G | XP_011526955.1:n.*827A>G | |
| XM_011528654.1:c.*827A>G | XP_011526956.1:n.*827A>G | |
| XR_936511.1:n.3167A>G | ||
| XM_011528653.2:c.*827A>G | XP_011526955.1:n.*827A>G | |
| XM_011528654.2:c.*827A>G | XP_011526956.1:n.*827A>G | |
| XR_936511.2:n.3178A>G | ||
| NM_001207055.2:c.*827A>G | NP_001193984.1:n.*827A>G | |
| NM_001207056.2:c.*827A>G | NP_001193985.1:n.*827A>G | |
| NM_006892.4:c.*827A>G MANE Select | NP_008823.1:n.*827A>G | |
| NM_175848.2:c.*827A>G | NP_787044.1:n.*827A>G | |
| NM_175849.2:c.*827A>G | NP_787045.1:n.*827A>G | |
| NM_175850.3:c.*827A>G | NP_787046.1:n.*827A>G |