Linked Data
ClinVar Variation Id:
1522331
dbSNP Id:
rs550705310
ExAC:
5:118814681 C / T
gnomAD v2:
5-118814681-C-T
gnomAD v3:
5-119478986-C-T
gnomAD v4:
5-119478986-C-T
COSMIC:
COSM3134574
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478986C>T , CM000667.2:g.119478986C>T | GRCh38 |
| NC_000005.9:g.118814681C>T , CM000667.1:g.118814681C>T | GRCh37 |
| NC_000005.8:g.118842580C>T | NCBI36 |
| NG_008182.1:g.31534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.587C>T | ENSP00000426272.2:p.Ala196Val | |
| ENST00000518349.6:c.113-17557C>T | ENSP00000507185.1:n.113-17557C>T | |
| ENST00000682445.1:c.*468C>T | ENSP00000508061.1:n.*468C>T | |
| ENST00000682531.1:n.688C>T | ||
| ENST00000682626.1:c.*93C>T | ENSP00000507857.1:n.*93C>T | |
| ENST00000682996.1:c.587C>T | ENSP00000507792.1:p.Ala196Val | |
| ENST00000683265.1:n.680C>T | ||
| ENST00000683371.1:c.*717C>T | ENSP00000508376.1:n.*717C>T | |
| ENST00000683390.1:n.2277C>T | ||
| ENST00000683549.1:n.508C>T | ||
| ENST00000683936.1:c.*472C>T | ENSP00000507721.1:n.*472C>T | |
| ENST00000683974.1:n.669C>T | ||
| ENST00000683996.1:c.176C>T | ENSP00000507060.1:p.Ala59Val | |
| ENST00000684131.1:n.426C>T | ||
| ENST00000684160.1:c.*277C>T | ENSP00000507821.1:n.*277C>T | |
| ENST00000684214.1:c.587C>T | ENSP00000508071.1:p.Ala196Val | |
| ENST00000414835.7:c.662C>T | ENSP00000411960.3:p.Ala221Val | |
| ENST00000510025.7:c.587C>T MANE Select | ENSP00000424940.3:p.Ala196Val | |
| ENST00000643250.1:c.*459C>T | ENSP00000494737.1:n.*459C>T | |
| ENST00000644146.1:c.*165C>T | ENSP00000494808.1:n.*165C>T | |
| ENST00000645099.1:c.146C>T | ENSP00000496091.1:p.Ala49Val | |
| ENST00000645702.1:c.176C>T | ENSP00000496432.1:p.Ala59Val | |
| ENST00000645832.1:c.*472C>T | ENSP00000494316.1:n.*472C>T | |
| ENST00000646058.1:c.587C>T | ENSP00000493579.1:p.Ala196Val | |
| ENST00000646355.1:c.*593C>T | ENSP00000493801.1:n.*593C>T | |
| ENST00000646554.1:c.*565C>T | ENSP00000494542.1:n.*565C>T | |
| ENST00000647335.1:c.*554C>T | ENSP00000495180.1:n.*554C>T | |
| ENST00000647342.1:c.*518C>T | ENSP00000494992.1:n.*518C>T | |
| ENST00000256216.10:c.587C>T | ENSP00000256216.6:p.Ala196Val | |
| ENST00000414835.6:c.167C>T | ENSP00000411960.2:p.Ala56Val | |
| ENST00000442060.7:c.587C>T | ENSP00000390208.3:p.Ala196Val | |
| ENST00000503168.5:n.576C>T | ||
| ENST00000504811.5:c.662C>T | ENSP00000420914.1:p.Ala221Val | |
| ENST00000505181.5:n.290C>T | ||
| ENST00000509514.5:c.-298C>T | ENSP00000426272.1:n.-298C>T | |
| ENST00000510025.5:c.515C>T | ENSP00000424940.1:p.Ala172Val | |
| ENST00000512644.1:n.155C>T | ||
| ENST00000513628.5:c.176C>T | ENSP00000425993.1:p.Ala59Val | |
| ENST00000515235.6:n.647C>T | ||
| ENST00000515320.5:c.533C>T | ENSP00000424613.1:p.Ala178Val | |
| NM_000414.3:c.587C>T | NP_000405.1:p.Ala196Val | |
| NM_001199291.2:c.662C>T | NP_001186220.1:p.Ala221Val | |
| NM_001199292.1:c.533C>T | NP_001186221.1:p.Ala178Val | |
| NM_001292027.1:c.515C>T | NP_001278956.1:p.Ala172Val | |
| NM_001292028.1:c.167C>T | NP_001278957.1:p.Ala56Val | |
| NM_000414.4:c.587C>T MANE Select | NP_000405.1:p.Ala196Val | |
| NM_001199291.3:c.662C>T | NP_001186220.1:p.Ala221Val | |
| NM_001199292.2:c.533C>T | NP_001186221.1:p.Ala178Val | |
| NM_001292027.2:c.515C>T | NP_001278956.1:p.Ala172Val | |
| NM_001292028.2:c.167C>T | NP_001278957.1:p.Ala56Val | |
| NM_001374497.1:c.578C>T | NP_001361426.1:p.Ala193Val | |
| NM_001374498.1:c.587C>T | NP_001361427.1:p.Ala196Val | |
| NM_001374499.1:c.260C>T | NP_001361428.1:p.Ala87Val | |
| NM_001374500.1:c.146C>T | NP_001361429.1:p.Ala49Val | |
| NM_001374501.1:c.176C>T | NP_001361430.1:p.Ala59Val | |
| NM_001374502.1:c.176C>T | NP_001361431.1:p.Ala59Val | |
| NM_001374503.1:c.176C>T | NP_001361432.1:p.Ala59Val | |
| NR_164653.1:n.666C>T | ||
| NR_164654.1:n.854C>T |