gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000709 (NFE)
Exomes Max Group AF
0.00000772 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040933C>T , CM000668.2:g.32040933C>T | GRCh38 |
| NC_000006.11:g.32008710C>T , CM000668.1:g.32008710C>T | GRCh37 |
| NC_000006.10:g.32116689C>T | NCBI36 |
| NG_007941.2:g.7626C>T | |
| NG_008337.2:g.73442G>A | |
| NG_007941.3:g.7629C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1287C>T MANE Select | ENSP00000496625.1:p.Cys429= | |
| ENST00000418967.6:c.1287C>T | ENSP00000408860.2:p.Cys429= | |
| ENST00000435122.3:c.1197C>T | ENSP00000415043.2:p.Cys399= | |
| ENST00000479074.5:n.1428C>T | ||
| ENST00000479730.5:n.1403C>T | ||
| ENST00000483041.5:n.1456C>T | ||
| ENST00000486063.5:n.1266C>T | ||
| NM_000500.7:c.1287C>T | NP_000491.4:p.Cys429= | |
| NM_001128590.3:c.1197C>T | NP_001122062.3:p.Cys399= | |
| XM_011514314.1:c.882C>T | XP_011512616.1:p.Cys294= | |
| NM_000500.9:c.1287C>T MANE Select | NP_000491.4:p.Cys429= | |
| NM_001368143.1:c.882C>T | NP_001355072.1:p.Cys294= | |
| NM_001368144.1:c.882C>T | NP_001355073.1:p.Cys294= | |
| NM_001128590.4:c.1197C>T | NP_001122062.3:p.Cys399= | |
| NM_001368143.2:c.882C>T | NP_001355072.1:p.Cys294= | |
| NM_001368144.2:c.882C>T | NP_001355073.1:p.Cys294= |