gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016175 (NFE)
Genomes Max Group AF
0.00007478 (NFE)
Exomes Max Group AF
0.00016256 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694424C>T , CM000685.2:g.153694424C>T | GRCh38 |
| NC_000023.10:g.152959879C>T , CM000685.1:g.152959879C>T | GRCh37 |
| NC_000023.9:g.152613073C>T | NCBI36 |
| NG_012016.1:g.11128C>T | |
| NG_012016.2:g.11128C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1473C>T MANE Select | ENSP00000253122.5:p.Cys491= | |
| ENST00000253122.9:c.1473C>T | ENSP00000253122.5:p.Cys491= | |
| ENST00000413787.1:c.402C>T | ENSP00000400463.1:p.Cys134= | |
| ENST00000430077.6:c.1128C>T | ENSP00000403041.2:p.Cys376= | |
| ENST00000485324.1:n.1694C>T | ||
| NM_001142805.1:c.1443C>T | NP_001136277.1:p.Cys481= | |
| NM_001142806.1:c.1128C>T | NP_001136278.1:p.Cys376= | |
| NM_005629.3:c.1473C>T | NP_005620.1:p.Cys491= | |
| NM_005629.4:c.1473C>T MANE Select | NP_005620.1:p.Cys491= | |
| NM_001142805.2:c.1443C>T | NP_001136277.1:p.Cys481= |