Revel Score:
ENST00000273783
0.750
ENST00000444495
0.750
ENST00000544027
0.750
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184140577T>C , CM000665.2:g.184140577T>C | GRCh38 |
| NC_000003.11:g.183858365T>C , CM000665.1:g.183858365T>C | GRCh37 |
| NC_000003.10:g.185341059T>C | NCBI36 |
| NG_015826.1:g.10556T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.1026T>C | ||
| ENST00000468748.7:n.1246T>C | ||
| ENST00000484154.2:n.1387-1348T>C | ||
| ENST00000491008.6:n.1751T>C | ||
| ENST00000492226.2:n.1260T>C | ||
| ENST00000492773.6:c.757T>C | ||
| ENST00000647636.1:c.1003T>C | ENSP00000497505.1:p.Cys335Arg | |
| ENST00000647909.1:c.1027T>C | ENSP00000498164.1:p.Cys343Arg | |
| ENST00000648145.1:c.771T>C | ||
| ENST00000648189.1:c.817T>C | ||
| ENST00000648256.1:c.975T>C | ENSP00000497356.1:n.975T>C | |
| ENST00000648314.1:c.*122T>C | ENSP00000496920.1:n.*122T>C | |
| ENST00000648599.1:c.*286T>C | ENSP00000497159.1:n.*286T>C | |
| ENST00000648630.1:c.997T>C | ENSP00000497887.1:p.Cys333Arg | |
| ENST00000648682.1:c.1003T>C | ENSP00000498185.1:p.Cys335Arg | |
| ENST00000648882.1:c.*829T>C | ENSP00000497603.1:n.*829T>C | |
| ENST00000648890.1:c.1003T>C | ENSP00000497503.1:p.Cys335Arg | |
| ENST00000648915.2:c.1003T>C MANE Select | ENSP00000497160.1:p.Cys335Arg | |
| ENST00000649545.1:c.577+420T>C | ||
| ENST00000649688.1:c.*286T>C | ENSP00000497097.1:n.*286T>C | |
| ENST00000649814.1:n.1052T>C | ||
| ENST00000650270.1:c.870T>C | ||
| ENST00000273783.7:c.1003T>C | ENSP00000273783.3:p.Cys335Arg | |
| ENST00000432982.5:c.246-1660T>C | ||
| ENST00000444495.1:c.1003T>C | ENSP00000409142.1:p.Cys335Arg | |
| ENST00000479833.1:n.319T>C | ||
| ENST00000481054.5:n.1097T>C | ||
| ENST00000491144.5:n.1507T>C | ||
| ENST00000493740.1:n.233T>C | ||
| NM_003907.2:c.1003T>C | NP_003898.2:p.Cys335Arg | |
| XM_011513265.1:c.253T>C | XP_011511567.1:p.Cys85Arg | |
| XM_011513266.1:c.166T>C | XP_011511568.1:p.Cys56Arg | |
| XR_924208.1:n.1954T>C | ||
| NM_003907.3:c.1003T>C MANE Select | NP_003898.2:p.Cys335Arg | |
| XM_011513266.3:c.166T>C | XP_011511568.1:p.Cys56Arg | |
| XR_001740352.2:n.1366T>C | ||
| XR_001740353.2:n.1366T>C | ||
| XR_924208.2:n.1366T>C |