gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54980669 (AFR)
Genomes Max Group AF
0.54480729 (AFR)
Exomes Max Group AF
0.55200181 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124879688C>G , CM000673.2:g.124879688C>G | GRCh38 |
| NC_000011.9:g.124749584C>G , CM000673.1:g.124749584C>G | GRCh37 |
| NC_000011.8:g.124254794C>G | NCBI36 |
| NG_016214.1:g.19280C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.3797-99C>G MANE Select | ENSP00000380903.1:n.3797-99C>G | |
| ENST00000397801.5:c.3797-99C>G | ENSP00000380903.1:n.3797-99C>G | |
| ENST00000524971.1:n.696-99C>G | ||
| ENST00000525304.5:n.617-99C>G | ||
| ENST00000525448.5:n.1559-99C>G | ||
| ENST00000525482.5:n.1066-99C>G | ||
| ENST00000527196.5:n.1358-99C>G | ||
| ENST00000527245.5:n.2675-99C>G | ||
| ENST00000528820.5:n.733-99C>G | ||
| ENST00000529658.5:n.1692-99C>G | ||
| ENST00000531075.5:n.505-99C>G | ||
| ENST00000538940.5:c.3731-99C>G | ENSP00000441797.1:n.3731-99C>G | |
| ENST00000543966.5:c.86-99C>G | ENSP00000438799.1:n.86-99C>G | |
| NM_022370.3:c.3797-99C>G | NP_071765.2:n.3797-99C>G | |
| XM_011542953.1:c.4769-99C>G | XP_011541255.1:n.4769-99C>G | |
| XM_017018122.1:c.3731-99C>G | XP_016873611.1:n.3731-99C>G | |
| NM_022370.4:c.3797-99C>G MANE Select | NP_071765.2:n.3797-99C>G | |
| NM_001370356.1:c.944-99C>G | NP_001357285.1:n.944-99C>G | |
| NM_001370357.1:c.944-99C>G | NP_001357286.1:n.944-99C>G | |
| NM_001370358.1:c.944-99C>G | NP_001357287.1:n.944-99C>G | |
| NM_001370359.1:c.944-99C>G | NP_001357288.1:n.944-99C>G | |
| NM_001370361.1:c.944-99C>G | NP_001357290.1:n.944-99C>G | |
| NM_001370364.1:c.749-99C>G | NP_001357293.1:n.749-99C>G | |
| NM_001370366.1:c.749-99C>G | NP_001357295.1:n.749-99C>G | |
| NR_163409.1:n.945-99C>G | ||
| NR_163410.1:n.1036-99C>G | ||
| NR_163411.1:n.1188-99C>G | ||
| NR_163412.1:n.1231-99C>G | ||
| NR_163413.1:n.761-99C>G | ||
| NR_163414.1:n.1012-99C>G | ||
| NR_163415.1:n.566-99C>G |