gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27017186 (EAS)
Genomes Max Group AF
0.27017186 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117077049T>C , CM000671.2:g.117077049T>C | GRCh38 |
| NC_000009.11:g.119839328T>C , CM000671.1:g.119839328T>C | GRCh37 |
| NC_000009.10:g.118879149T>C | NCBI36 |
| NG_021409.1:g.342990A>G | |
| NG_021409.2:g.343009A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313400.9:c.1276+18995A>G MANE Select | ENSP00000314038.4:n.1276+18995A>G | |
| ENST00000361477.8:c.1123+18995A>G | ENSP00000355116.5:n.1123+18995A>G | |
| ENST00000313400.8:c.1276+18995A>G | ENSP00000314038.4:n.1276+18995A>G | |
| ENST00000361209.6:c.1123+18995A>G | ENSP00000354504.2:n.1123+18995A>G | |
| ENST00000361477.7:c.-1569+18995A>G | ENSP00000355116.4:n.-1569+18995A>G | |
| ENST00000373986.7:c.457+18995A>G | ENSP00000363098.3:n.457+18995A>G | |
| NM_014010.4:c.1123+18995A>G | NP_054729.3:n.1123+18995A>G | |
| NM_001365068.1:c.1276+18995A>G MANE Select | NP_001351997.1:n.1276+18995A>G | |
| NM_001365069.1:c.1276+18995A>G | NP_001351998.1:n.1276+18995A>G | |
| NM_014010.5:c.1123+18995A>G | NP_054729.3:n.1123+18995A>G |