Revel Score:
ENST00000372435 (MANE Select)
0.634
ENST00000372428
0.634
ENST00000372419
0.634
ENST00000543248
0.634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107640956G>A , CM000685.2:g.107640956G>A | GRCh38 |
| NC_000023.10:g.106884186G>A , CM000685.1:g.106884186G>A | GRCh37 |
| NC_000023.9:g.106770842G>A | NCBI36 |
| NG_008407.1:g.17533G>A , LRG_264:g.17533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372418.4:c.307-1410G>A | ENSP00000361495.2:n.307-1410G>A | |
| ENST00000372435.10:c.361G>A MANE Select | ENSP00000361512.4:p.Ala121Thr | |
| ENST00000643795.2:c.361G>A | ENSP00000496286.1:p.Ala121Thr | |
| ENST00000644642.1:c.123-4221G>A | ENSP00000495493.1:n.123-4221G>A | |
| ENST00000645903.1:n.455G>A | ||
| ENST00000674525.1:n.446G>A | ||
| ENST00000674826.1:c.*54G>A | ENSP00000502278.1:n.*54G>A | |
| ENST00000675046.1:c.184+1478G>A | ||
| ENST00000675720.1:c.237G>A | ||
| ENST00000676092.1:c.358+3G>A | ENSP00000502780.1:n.358+3G>A | |
| ENST00000372418.2:c.106-1410G>A | ENSP00000361495.1:n.106-1410G>A | |
| ENST00000372419.3:c.361G>A | ENSP00000361496.3:p.Ala121Thr | |
| ENST00000372428.8:c.-82-4221G>A | ENSP00000361505.5:n.-82-4221G>A | |
| ENST00000372435.8:c.361G>A | ENSP00000361512.4:p.Ala121Thr | |
| NM_001204402.1:c.-82-4221G>A | NP_001191331.1:n.-82-4221G>A | |
| NM_002764.3:c.361G>A , LRG_264t1:c.361G>A | NP_002755.1:p.Ala121Thr | |
| NM_002764.4:c.361G>A MANE Select | NP_002755.1:p.Ala121Thr | |
| NM_001204402.2:c.-82-4221G>A | NP_001191331.1:n.-82-4221G>A |