gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95609868 (EAS)
Genomes Max Group AF
0.95609868 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.66055315A>G , CM000663.2:g.66055315A>G | GRCh38 |
| NC_000001.10:g.66520998A>G , CM000663.1:g.66520998A>G | GRCh37 |
| NC_000001.9:g.66293586A>G | NCBI36 |
| NG_029038.1:g.267806A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341517.9:c.281+136480A>G MANE Select | ENSP00000342637.4:n.281+136480A>G | |
| ENST00000329654.8:c.281+136480A>G | ENSP00000332116.4:n.281+136480A>G | |
| ENST00000341517.8:c.281+136480A>G | ENSP00000342637.4:n.281+136480A>G | |
| ENST00000423207.6:c.236+62173A>G | ENSP00000392947.2:n.236+62173A>G | |
| ENST00000526666.1:n.473+6425A>G | ||
| ENST00000531358.1:n.528-57455A>G | ||
| ENST00000532040.1:n.409-7579A>G | ||
| NM_001037340.2:c.236+62173A>G | NP_001032417.1:n.236+62173A>G | |
| NM_001037341.1:c.281+136480A>G | NP_001032418.1:n.281+136480A>G | |
| NM_001297440.1:c.5+141959A>G | NP_001284369.1:n.5+141959A>G | |
| NM_001297441.1:c.56+14607A>G | NP_001284370.1:n.56+14607A>G | |
| NM_002600.3:c.281+136480A>G | NP_002591.2:n.281+136480A>G | |
| XM_011541565.1:c.17+6425A>G | XP_011539867.1:n.17+6425A>G | |
| XM_011541566.1:c.-288+136480A>G | XP_011539868.1:n.-288+136480A>G | |
| NM_002600.4:c.281+136480A>G MANE Select | NP_002591.2:n.281+136480A>G | |
| NM_001037340.3:c.236+62173A>G | NP_001032417.1:n.236+62173A>G | |
| NM_001037341.2:c.281+136480A>G | NP_001032418.1:n.281+136480A>G | |
| NM_001297440.2:c.5+141959A>G | NP_001284369.1:n.5+141959A>G |