gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15949272 (AFR)
Genomes Max Group AF
0.15897512 (AFR)
Exomes Max Group AF
0.15723092 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53211560T>C , CM000674.2:g.53211560T>C | GRCh38 |
| NC_000012.11:g.53605344T>C , CM000674.1:g.53605344T>C | GRCh37 |
| NC_000012.10:g.51891611T>C | NCBI36 |
| NG_029822.1:g.25697A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425354.7:c.*116A>G MANE Select | ENSP00000388510.2:n.*116A>G | |
| ENST00000338561.9:c.*116A>G | ENSP00000343698.5:n.*116A>G | |
| ENST00000394426.5:c.*116A>G | ENSP00000377947.2:n.*116A>G | |
| ENST00000425354.6:c.*116A>G | ENSP00000388510.2:n.*116A>G | |
| ENST00000543726.1:c.*116A>G | ENSP00000444335.1:n.*116A>G | |
| ENST00000543762.5:n.1474A>G | ||
| NM_000966.5:c.*116A>G | NP_000957.1:n.*116A>G | |
| NM_001042728.2:c.*116A>G | NP_001036193.1:n.*116A>G | |
| NM_001243730.1:c.*116A>G | NP_001230659.1:n.*116A>G | |
| NM_001243731.1:c.*116A>G | NP_001230660.1:n.*116A>G | |
| NM_001243732.1:c.*116A>G | NP_001230661.1:n.*116A>G | |
| XM_005269054.2:c.*116A>G | XP_005269111.1:n.*116A>G | |
| XM_005269055.2:c.*116A>G | XP_005269112.1:n.*116A>G | |
| XM_005269056.2:c.*116A>G | XP_005269113.1:n.*116A>G | |
| XM_005269057.1:c.*116A>G | XP_005269114.1:n.*116A>G | |
| XM_011538628.1:c.*116A>G | XP_011536930.1:n.*116A>G | |
| XM_024449112.1:c.*116A>G | XP_024304880.1:n.*116A>G | |
| XM_024449113.1:c.*116A>G | XP_024304881.1:n.*116A>G | |
| XM_024449114.1:c.*116A>G | XP_024304882.1:n.*116A>G | |
| NM_000966.6:c.*116A>G MANE Select | NP_000957.1:n.*116A>G | |
| NM_001042728.3:c.*116A>G | NP_001036193.1:n.*116A>G | |
| NM_001243731.2:c.*116A>G | NP_001230660.1:n.*116A>G | |
| NM_001243732.2:c.*116A>G | NP_001230661.1:n.*116A>G | |
| NM_001243730.2:c.*116A>G | NP_001230659.1:n.*116A>G |