Revel Score:
ENST00000372435 (MANE Select)
0.625
ENST00000372419
0.625
ENST00000543248
0.625
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107639301A>T , CM000685.2:g.107639301A>T | GRCh38 |
| NC_000023.10:g.106882531A>T , CM000685.1:g.106882531A>T | GRCh37 |
| NC_000023.9:g.106769187A>T | NCBI36 |
| NG_008407.1:g.15878A>T , LRG_264:g.15878A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372418.4:c.129A>T | ENSP00000361495.2:p.Glu43Asp | |
| ENST00000372435.10:c.129A>T MANE Select | ENSP00000361512.4:p.Glu43Asp | |
| ENST00000643795.2:c.129A>T | ENSP00000496286.1:p.Glu43Asp | |
| ENST00000644642.1:c.123-5876A>T | ENSP00000495493.1:n.123-5876A>T | |
| ENST00000645638.1:c.*98A>T | ENSP00000496554.1:n.*98A>T | |
| ENST00000645903.1:n.223A>T | ||
| ENST00000674525.1:n.214A>T | ||
| ENST00000674826.1:c.123-1601A>T | ENSP00000502278.1:n.123-1601A>T | |
| ENST00000674843.1:c.231A>T | ENSP00000502260.1:n.231A>T | |
| ENST00000675046.1:c.7A>T | ||
| ENST00000675304.1:n.62A>T | ||
| ENST00000675720.1:c.7A>T | ||
| ENST00000676092.1:c.129A>T | ENSP00000502780.1:p.Glu43Asp | |
| ENST00000372419.3:c.129A>T | ENSP00000361496.3:p.Glu43Asp | |
| ENST00000372428.8:c.-82-5876A>T | ENSP00000361505.5:n.-82-5876A>T | |
| ENST00000372435.8:c.129A>T | ENSP00000361512.4:p.Glu43Asp | |
| NM_001204402.1:c.-82-5876A>T | NP_001191331.1:n.-82-5876A>T | |
| NM_002764.3:c.129A>T , LRG_264t1:c.129A>T | NP_002755.1:p.Glu43Asp | |
| NM_002764.4:c.129A>T MANE Select | NP_002755.1:p.Glu43Asp | |
| NM_001204402.2:c.-82-5876A>T | NP_001191331.1:n.-82-5876A>T |