Revel Score:
ENST00000336378
0.387
ENST00000540872
0.387
ENST00000537517
0.387
ENST00000374362
0.387
ENST00000399588
0.387
ENST00000359860
0.387
ENST00000420848
0.387
ENST00000436993
0.387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.45750793C>T , CM000672.2:g.45750793C>T | GRCh38 |
| NC_000010.10:g.46246241C>T , CM000672.1:g.46246241C>T | GRCh37 |
| NC_000010.9:g.45566247C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537517.6:c.886C>T | ENSP00000442128.1:p.Arg296Cys | |
| ENST00000540872.6:c.886C>T | ENSP00000439811.1:p.Arg296Cys | |
| ENST00000623400.4:c.886C>T MANE Select | ENSP00000485513.1:p.Arg296Cys | |
| ENST00000336378.8:c.886C>T | ENSP00000337541.5:p.Arg296Cys | |
| ENST00000359860.7:c.718C>T | ENSP00000352922.6:p.Arg240Cys | |
| ENST00000374362.6:c.886C>T | ENSP00000363482.2:p.Arg296Cys | |
| ENST00000420848.3:c.721C>T | ENSP00000416630.1:p.Arg241Cys | |
| ENST00000537517.5:c.886C>T | ENSP00000442128.1:p.Arg296Cys | |
| ENST00000540872.5:c.886C>T | ENSP00000439811.1:p.Arg296Cys | |
| ENST00000623400.3:c.886C>T | ENSP00000485513.1:p.Arg296Cys | |
| NM_001169106.1:c.886C>T | NP_001162577.1:p.Arg296Cys | |
| NM_001169107.1:c.886C>T | NP_001162578.1:p.Arg296Cys | |
| NM_015262.2:c.886C>T | NP_056077.2:p.Arg296Cys | |
| XM_011539566.1:c.886C>T | XP_011537868.1:p.Arg296Cys | |
| XM_011539567.1:c.886C>T | XP_011537869.1:p.Arg296Cys | |
| XM_011539568.1:c.886C>T | XP_011537870.1:p.Arg296Cys | |
| XM_011539569.1:c.886C>T | XP_011537871.1:p.Arg296Cys | |
| XM_011539570.1:c.712C>T | XP_011537872.1:p.Arg238Cys | |
| XM_011539571.1:c.886C>T | XP_011537873.1:p.Arg296Cys | |
| XM_011539572.1:c.886C>T | XP_011537874.1:p.Arg296Cys | |
| NM_001330074.1:c.886C>T | NP_001317003.1:p.Arg296Cys | |
| XM_011539567.2:c.886C>T | XP_011537869.1:p.Arg296Cys | |
| XM_011539568.2:c.886C>T | XP_011537870.1:p.Arg296Cys | |
| XM_011539569.2:c.886C>T | XP_011537871.1:p.Arg296Cys | |
| XM_011539570.3:c.712C>T | XP_011537872.1:p.Arg238Cys | |
| XM_011539571.2:c.886C>T | XP_011537873.1:p.Arg296Cys | |
| XM_011539572.2:c.886C>T | XP_011537874.1:p.Arg296Cys | |
| XM_017016014.2:c.886C>T | XP_016871503.1:p.Arg296Cys | |
| XM_017016015.2:c.886C>T | XP_016871504.1:p.Arg296Cys | |
| XM_017016016.2:c.886C>T | XP_016871505.1:p.Arg296Cys | |
| XM_017016017.2:c.886C>T | XP_016871506.1:p.Arg296Cys | |
| XM_017016018.2:c.886C>T | XP_016871507.1:p.Arg296Cys | |
| XM_017016019.2:c.886C>T | XP_016871508.1:p.Arg296Cys | |
| XM_017016020.2:c.886C>T | XP_016871509.1:p.Arg296Cys | |
| XM_017016021.1:c.625C>T | XP_016871510.1:p.Arg209Cys | |
| XM_017016022.2:c.625C>T | XP_016871511.1:p.Arg209Cys | |
| XM_017016023.1:c.625C>T | XP_016871512.1:p.Arg209Cys | |
| XM_017016025.1:c.-748C>T | XP_016871514.1:n.-748C>T | |
| XM_017016026.2:c.886C>T | XP_016871515.1:p.Arg296Cys | |
| XM_024447925.1:c.-835C>T | XP_024303693.1:n.-835C>T | |
| XR_002956972.1:n.907C>T | ||
| NM_001367393.1:c.880C>T | NP_001354322.1:p.Arg294Cys | |
| NM_001367394.1:c.886C>T | NP_001354323.1:p.Arg296Cys | |
| NM_001367395.1:c.886C>T | NP_001354324.1:p.Arg296Cys | |
| NM_001367396.1:c.886C>T | NP_001354325.1:p.Arg296Cys | |
| NM_001367397.1:c.886C>T | NP_001354326.1:p.Arg296Cys | |
| NM_001367398.1:c.307C>T | NP_001354327.1:p.Arg103Cys | |
| NM_001367399.1:c.622C>T | NP_001354328.1:p.Arg208Cys | |
| NM_001367400.1:c.886C>T | NP_001354329.1:p.Arg296Cys | |
| NM_001367401.1:c.886C>T | NP_001354330.1:p.Arg296Cys | |
| NM_001367402.1:c.307C>T | NP_001354331.1:p.Arg103Cys | |
| NM_001367403.1:c.886C>T | NP_001354332.1:p.Arg296Cys | |
| NM_001367404.1:c.727C>T | NP_001354333.1:p.Arg243Cys | |
| NM_001367405.1:c.307C>T | NP_001354334.1:p.Arg103Cys | |
| NM_001367406.1:c.-835C>T | NP_001354335.1:n.-835C>T | |
| NM_001367407.1:c.307C>T | NP_001354336.1:p.Arg103Cys | |
| NM_001367408.1:c.886C>T | NP_001354337.1:p.Arg296Cys | |
| NM_001367409.1:c.625C>T | NP_001354338.1:p.Arg209Cys | |
| NM_001367410.1:c.622C>T | NP_001354339.1:p.Arg208Cys | |
| NM_001367411.1:c.625C>T | NP_001354340.1:p.Arg209Cys | |
| NM_001367412.1:c.307C>T | NP_001354341.1:p.Arg103Cys | |
| NM_001367413.1:c.625C>T | NP_001354342.1:p.Arg209Cys | |
| NM_001367414.1:c.307C>T | NP_001354343.1:p.Arg103Cys | |
| NM_001367415.1:c.886C>T | NP_001354344.1:p.Arg296Cys | |
| NM_001367416.1:c.886C>T | NP_001354345.1:p.Arg296Cys | |
| NR_159966.1:n.1148C>T | ||
| NM_001169106.2:c.886C>T | NP_001162577.1:p.Arg296Cys | |
| NM_001169107.2:c.886C>T | NP_001162578.1:p.Arg296Cys | |
| NM_001330074.2:c.886C>T MANE Select | NP_001317003.1:p.Arg296Cys | |
| NM_015262.3:c.886C>T | NP_056077.2:p.Arg296Cys |