Revel Score:
ENST00000372435 (MANE Select)
0.842
ENST00000372428
0.842
ENST00000543248
0.842
ENST00000372418
0.842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107642384G>T , CM000685.2:g.107642384G>T | GRCh38 |
| NC_000023.10:g.106885614G>T , CM000685.1:g.106885614G>T | GRCh37 |
| NC_000023.9:g.106772270G>T | NCBI36 |
| NG_008407.1:g.18961G>T , LRG_264:g.18961G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372418.4:c.325G>T | ENSP00000361495.2:p.Val109Leu | |
| ENST00000372435.10:c.424G>T MANE Select | ENSP00000361512.4:p.Val142Leu | |
| ENST00000643795.2:c.424G>T | ENSP00000496286.1:p.Val142Leu | |
| ENST00000644642.1:c.123-2793G>T | ENSP00000495493.1:n.123-2793G>T | |
| ENST00000645903.1:n.518G>T | ||
| ENST00000674525.1:n.490+1384G>T | ||
| ENST00000674826.1:c.*117G>T | ENSP00000502278.1:n.*117G>T | |
| ENST00000675046.1:c.185-2793G>T | ||
| ENST00000675082.1:c.19G>T | ENSP00000502347.1:p.Val7Leu | |
| ENST00000675124.1:c.19G>T | ENSP00000502439.1:p.Val7Leu | |
| ENST00000675630.1:c.19G>T | ENSP00000502050.1:p.Val7Leu | |
| ENST00000675720.1:c.300G>T | ||
| ENST00000675921.1:c.19G>T | ENSP00000502707.1:p.Val7Leu | |
| ENST00000676092.1:c.358+1431G>T | ENSP00000502780.1:n.358+1431G>T | |
| ENST00000372418.2:c.124G>T | ENSP00000361495.1:p.Val42Leu | |
| ENST00000372428.8:c.-82-2793G>T | ENSP00000361505.5:n.-82-2793G>T | |
| ENST00000372435.8:c.424G>T | ENSP00000361512.4:p.Val142Leu | |
| NM_001204402.1:c.-82-2793G>T | NP_001191331.1:n.-82-2793G>T | |
| NM_002764.3:c.424G>T , LRG_264t1:c.424G>T | NP_002755.1:p.Val142Leu | |
| NM_002764.4:c.424G>T MANE Select | NP_002755.1:p.Val142Leu | |
| NM_001204402.2:c.-82-2793G>T | NP_001191331.1:n.-82-2793G>T |