COSMIC:
COSM4002475 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22379042 (EAS)
Genomes Max Group AF
0.23480613 (EAS)
Exomes Max Group AF
0.22116036 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133756878C>T , CM000665.2:g.133756878C>T | GRCh38 |
| NC_000003.11:g.133475722C>T , CM000665.1:g.133475722C>T | GRCh37 |
| NC_000003.10:g.134958412C>T | NCBI36 |
| NG_013080.1:g.15746C>T | |
| NG_013080.2:g.99881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.739C>T MANE Select | ENSP00000385834.3:p.Leu247= | |
| ENST00000402696.7:c.739C>T | ENSP00000385834.3:p.Leu247= | |
| ENST00000482271.5:c.358C>T | ENSP00000419338.1:p.Leu120= | |
| ENST00000485977.1:c.158-54C>T | ENSP00000418716.1:n.158-54C>T | |
| NM_001063.3:c.739C>T | NP_001054.1:p.Leu247= | |
| XM_011513100.1:c.739C>T | XP_011511402.1:p.Leu247= | |
| NM_001354703.1:c.607C>T | NP_001341632.1:p.Leu203= | |
| NM_001354704.1:c.358C>T | NP_001341633.1:p.Leu120= | |
| NM_001063.4:c.739C>T MANE Select | NP_001054.2:p.Leu247= | |
| NM_001354703.2:c.607C>T | NP_001341632.2:p.Leu203= | |
| NM_001354704.2:c.358C>T | NP_001341633.2:p.Leu120= |