Linked Data
ClinVar Variation Id:
1080342
ClinVar RCV Id:
RCV001395942
dbSNP Id:
rs1403761935
gnomAD v2:
5-118850729-C-T
gnomAD v3:
5-119515034-C-T
gnomAD v4:
5-119515034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119515034C>T , CM000667.2:g.119515034C>T | GRCh38 |
| NC_000005.9:g.118850729C>T , CM000667.1:g.118850729C>T | GRCh37 |
| NC_000005.8:g.118878628C>T | NCBI36 |
| NG_008182.1:g.67582C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1422C>T | ENSP00000426272.2:p.Thr474= | |
| ENST00000518349.6:c.735C>T | ENSP00000507185.1:p.Thr245= | |
| ENST00000520244.6:n.3229C>T | ||
| ENST00000682445.1:c.*1372C>T | ENSP00000508061.1:n.*1372C>T | |
| ENST00000682531.1:n.3383C>T | ||
| ENST00000682626.1:c.*997C>T | ENSP00000507857.1:n.*997C>T | |
| ENST00000682996.1:c.1419C>T | ENSP00000507792.1:p.Thr473= | |
| ENST00000683265.1:n.3277C>T | ||
| ENST00000683335.1:n.2893C>T | ||
| ENST00000683371.1:c.*1621C>T | ENSP00000508376.1:n.*1621C>T | |
| ENST00000683372.1:n.3501C>T | ||
| ENST00000683390.1:n.3181C>T | ||
| ENST00000683549.1:n.3105C>T | ||
| ENST00000683936.1:c.*3069C>T | ENSP00000507721.1:n.*3069C>T | |
| ENST00000683974.1:n.3220C>T | ||
| ENST00000683996.1:c.*701C>T | ENSP00000507060.1:n.*701C>T | |
| ENST00000684131.1:n.3023C>T | ||
| ENST00000684160.1:c.*1181C>T | ENSP00000507821.1:n.*1181C>T | |
| ENST00000684214.1:c.1491C>T | ENSP00000508071.1:p.Thr497= | |
| ENST00000414835.7:c.1566C>T | ENSP00000411960.3:p.Thr522= | |
| ENST00000510025.7:c.1491C>T MANE Select | ENSP00000424940.3:p.Thr497= | |
| ENST00000643250.1:c.*1363C>T | ENSP00000494737.1:n.*1363C>T | |
| ENST00000644146.1:c.*2762C>T | ENSP00000494808.1:n.*2762C>T | |
| ENST00000645099.1:c.1050C>T | ENSP00000496091.1:p.Thr350= | |
| ENST00000645702.1:c.*894C>T | ENSP00000496432.1:n.*894C>T | |
| ENST00000645832.1:c.*1376C>T | ENSP00000494316.1:n.*1376C>T | |
| ENST00000646058.1:c.1491C>T | ENSP00000493579.1:p.Thr497= | |
| ENST00000646355.1:c.*1497C>T | ENSP00000493801.1:n.*1497C>T | |
| ENST00000646554.1:c.*1469C>T | ENSP00000494542.1:n.*1469C>T | |
| ENST00000647335.1:c.*1458C>T | ENSP00000495180.1:n.*1458C>T | |
| ENST00000647342.1:c.*1422C>T | ENSP00000494992.1:n.*1422C>T | |
| ENST00000256216.10:c.1491C>T | ENSP00000256216.6:p.Thr497= | |
| ENST00000414835.6:c.1071C>T | ENSP00000411960.2:p.Thr357= | |
| ENST00000442060.7:c.*53C>T | ENSP00000390208.3:n.*53C>T | |
| ENST00000504811.5:c.1566C>T | ENSP00000420914.1:p.Thr522= | |
| ENST00000509514.5:c.705C>T | ENSP00000426272.1:p.Thr235= | |
| ENST00000510025.5:c.1419C>T | ENSP00000424940.1:p.Thr473= | |
| ENST00000513628.5:c.1080C>T | ENSP00000425993.1:p.Thr360= | |
| ENST00000515235.6:n.3244C>T | ||
| ENST00000515320.5:c.1437C>T | ENSP00000424613.1:p.Thr479= | |
| ENST00000518349.5:n.625C>T | ||
| ENST00000520244.5:n.274C>T | ||
| ENST00000522415.5:n.158C>T | ||
| NM_000414.3:c.1491C>T | NP_000405.1:p.Thr497= | |
| NM_001199291.2:c.1566C>T | NP_001186220.1:p.Thr522= | |
| NM_001199292.1:c.1437C>T | NP_001186221.1:p.Thr479= | |
| NM_001292027.1:c.1419C>T | NP_001278956.1:p.Thr473= | |
| NM_001292028.1:c.1071C>T | NP_001278957.1:p.Thr357= | |
| NM_000414.4:c.1491C>T MANE Select | NP_000405.1:p.Thr497= | |
| NM_001199291.3:c.1566C>T | NP_001186220.1:p.Thr522= | |
| NM_001199292.2:c.1437C>T | NP_001186221.1:p.Thr479= | |
| NM_001292027.2:c.1419C>T | NP_001278956.1:p.Thr473= | |
| NM_001292028.2:c.1071C>T | NP_001278957.1:p.Thr357= | |
| NM_001374497.1:c.1482C>T | NP_001361426.1:p.Thr494= | |
| NM_001374498.1:c.1419C>T | NP_001361427.1:p.Thr473= | |
| NM_001374499.1:c.1164C>T | NP_001361428.1:p.Thr388= | |
| NM_001374500.1:c.1050C>T | NP_001361429.1:p.Thr350= | |
| NM_001374501.1:c.1080C>T | NP_001361430.1:p.Thr360= | |
| NM_001374502.1:c.1080C>T | NP_001361431.1:p.Thr360= | |
| NM_001374503.1:c.1080C>T | NP_001361432.1:p.Thr360= | |
| NR_164653.1:n.1588C>T | ||
| NR_164654.1:n.1856C>T |