gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01467226 (EAS)
Genomes Max Group AF
0.01691955 (EAS)
Exomes Max Group AF
0.0140107 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88814436G>C , CM000678.2:g.88814436G>C | GRCh38 |
| NC_000016.9:g.88880844G>C , CM000678.1:g.88880844G>C | GRCh37 |
| NC_000016.8:g.87408345G>C | NCBI36 |
| NG_008013.1:g.2499C>G | |
| NG_008667.1:g.47531C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.*3C>G MANE Select | ENSP00000268695.5:n.*3C>G | |
| ENST00000268695.9:c.*3C>G | ENSP00000268695.5:n.*3C>G | |
| ENST00000562593.5:n.4981C>G | ||
| ENST00000567525.5:c.1253C>G | ENSP00000454484.1:n.1253C>G | |
| ENST00000568613.5:c.1691C>G | ENSP00000457921.1:n.1691C>G | |
| NM_000512.4:c.*3C>G | NP_000503.1:n.*3C>G | |
| XM_005256302.1:c.*3C>G | XP_005256359.1:n.*3C>G | |
| NM_001323543.1:c.*3C>G | NP_001310472.1:n.*3C>G | |
| NM_001323544.1:c.*3C>G | NP_001310473.1:n.*3C>G | |
| XM_005256301.3:c.*2736C>G | XP_005256358.1:n.*2736C>G | |
| XM_011522982.2:c.*2736C>G | XP_011521284.1:n.*2736C>G | |
| XM_017023112.2:c.*2994C>G | XP_016878601.1:n.*2994C>G | |
| XM_017023113.1:c.*2736C>G | XP_016878602.1:n.*2736C>G | |
| NM_000512.5:c.*3C>G MANE Select | NP_000503.1:n.*3C>G | |
| NM_001323543.2:c.*3C>G | NP_001310472.1:n.*3C>G | |
| NM_001323544.2:c.*3C>G | NP_001310473.1:n.*3C>G |