gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51567878 (NFE)
Genomes Max Group AF
0.51567878 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.66265030C>G , CM000663.2:g.66265030C>G | GRCh38 |
| NC_000001.10:g.66730713C>G , CM000663.1:g.66730713C>G | GRCh37 |
| NC_000001.9:g.66503301C>G | NCBI36 |
| NG_029038.1:g.477521C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341517.9:c.585-1008C>G MANE Select | ENSP00000342637.4:n.585-1008C>G | |
| ENST00000329654.8:c.585-1008C>G | ENSP00000332116.4:n.585-1008C>G | |
| ENST00000341517.8:c.585-1008C>G | ENSP00000342637.4:n.585-1008C>G | |
| ENST00000371048.7:n.249-1008C>G | ||
| ENST00000412480.6:c.309-1008C>G | ENSP00000397548.2:n.309-1008C>G | |
| ENST00000423207.6:c.540-1008C>G | ENSP00000392947.2:n.540-1008C>G | |
| ENST00000490695.1:n.211-1008C>G | ||
| ENST00000491340.2:c.109-1008C>G | ||
| NM_001037340.2:c.540-1008C>G | NP_001032417.1:n.540-1008C>G | |
| NM_001037341.1:c.585-1008C>G | NP_001032418.1:n.585-1008C>G | |
| NM_001297440.1:c.309-1008C>G | NP_001284369.1:n.309-1008C>G | |
| NM_001297441.1:c.360-1008C>G | NP_001284370.1:n.360-1008C>G | |
| NM_002600.3:c.585-1008C>G | NP_002591.2:n.585-1008C>G | |
| XM_011541565.1:c.321-1008C>G | XP_011539867.1:n.321-1008C>G | |
| XM_011541566.1:c.16+7167C>G | XP_011539868.1:n.16+7167C>G | |
| XM_017001445.1:c.168-1008C>G | XP_016856934.1:n.168-1008C>G | |
| NM_002600.4:c.585-1008C>G MANE Select | NP_002591.2:n.585-1008C>G | |
| NM_001037340.3:c.540-1008C>G | NP_001032417.1:n.540-1008C>G | |
| NM_001037341.2:c.585-1008C>G | NP_001032418.1:n.585-1008C>G | |
| NM_001297440.2:c.309-1008C>G | NP_001284369.1:n.309-1008C>G |