gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32272898 (EAS)
Genomes Max Group AF
0.33807164 (EAS)
Exomes Max Group AF
0.31163564 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38142530A>G , CM000665.2:g.38142530A>G | GRCh38 |
| NC_000003.11:g.38184021A>G , CM000665.1:g.38184021A>G | GRCh37 |
| NC_000003.10:g.38159025A>G | NCBI36 |
| NG_016964.1:g.9053A>G , LRG_157:g.9053A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463956.2:n.1922A>G | ||
| ENST00000484513.2:n.3613A>G | ||
| ENST00000699084.1:n.3224A>G | ||
| ENST00000699085.1:n.3000A>G | ||
| ENST00000699086.1:c.1916A>G | ||
| ENST00000396334.8:c.*1244A>G | ENSP00000379625.4:n.*1244A>G | |
| ENST00000416282.3:n.2238A>G | ||
| ENST00000417037.8:c.*1244A>G | ENSP00000401399.4:n.*1244A>G | |
| ENST00000421516.3:c.*1244A>G | ENSP00000391753.3:n.*1244A>G | |
| ENST00000650112.2:c.*1378A>G | ENSP00000497991.2:n.*1378A>G | |
| ENST00000650905.2:c.*1244A>G MANE Select | ENSP00000498360.2:n.*1244A>G | |
| ENST00000651800.2:c.*1378A>G | ENSP00000499012.2:n.*1378A>G | |
| ENST00000652213.1:c.*1378A>G | ENSP00000498576.1:n.*1378A>G | |
| ENST00000652590.1:n.2363A>G | ||
| ENST00000396334.7:c.*1244A>G | ENSP00000379625.3:n.*1244A>G | |
| ENST00000416282.2:n.2238A>G | ||
| ENST00000417037.6:c.*1244A>G | ENSP00000401399.2:n.*1244A>G | |
| ENST00000421516.1:c.2195A>G | ENSP00000391753.1:n.2195A>G | |
| ENST00000484513.1:n.2825A>G | ||
| NM_001172566.1:c.*1378A>G | NP_001166037.1:n.*1378A>G | |
| NM_001172567.1:c.*1244A>G , LRG_157t1:c.*1244A>G | NP_001166038.1:n.*1244A>G | |
| NM_001172568.1:c.*1244A>G | NP_001166039.1:n.*1244A>G | |
| NM_001172569.1:c.*1378A>G | NP_001166040.1:n.*1378A>G | |
| NM_002468.4:c.*1244A>G | NP_002459.2:n.*1244A>G | |
| XM_005265172.1:c.*1378A>G | XP_005265229.1:n.*1378A>G | |
| XM_006713170.1:c.*1378A>G | XP_006713233.1:n.*1378A>G | |
| NM_001172566.2:c.*1378A>G | NP_001166037.2:n.*1378A>G | |
| NM_001172567.2:c.*1244A>G | NP_001166038.2:n.*1244A>G | |
| NM_001172568.2:c.*1244A>G | NP_001166039.2:n.*1244A>G | |
| NM_001172569.2:c.*1378A>G | NP_001166040.2:n.*1378A>G | |
| NM_001365876.1:c.*1378A>G | NP_001352805.1:n.*1378A>G | |
| NM_001365877.1:c.*1378A>G | NP_001352806.1:n.*1378A>G | |
| NM_002468.5:c.*1244A>G MANE Select | NP_002459.3:n.*1244A>G | |
| NM_001172569.3:c.*1378A>G | NP_001166040.2:n.*1378A>G | |
| NM_001374787.1:c.*1378A>G | NP_001361716.1:n.*1378A>G | |
| NM_001374788.1:c.*1244A>G | NP_001361717.1:n.*1244A>G | |
| NR_164663.1:n.1818A>G |