Revel Score:
ENST00000426016
0.564
ENST00000402219 (MANE Select)
0.564
ENST00000395038
0.564
ENST00000263879
0.564
ENST00000428721
0.564
ENST00000451331
0.564
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39058794T>A , CM000664.2:g.39058794T>A | GRCh38 |
| NC_000002.11:g.39285935T>A , CM000664.1:g.39285935T>A | GRCh37 |
| NC_000002.10:g.39139439T>A | NCBI36 |
| NG_007530.1:g.66670A>T , LRG_754:g.66670A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.251A>T | ||
| ENST00000685782.1:n.1062A>T | ||
| ENST00000689668.1:n.231A>T | ||
| ENST00000690679.1:c.324A>T | ||
| ENST00000690876.1:c.224A>T | ENSP00000508955.1:p.Gln75Leu | |
| ENST00000691229.1:c.224A>T | ENSP00000510437.1:p.Gln75Leu | |
| ENST00000692089.1:c.224A>T | ENSP00000508626.1:p.Gln75Leu | |
| ENST00000402219.8:c.224A>T MANE Select | ENSP00000384675.2:p.Gln75Leu | |
| ENST00000395038.6:c.224A>T | ENSP00000378479.2:p.Gln75Leu | |
| ENST00000402219.6:c.224A>T | ENSP00000384675.2:p.Gln75Leu | |
| ENST00000426016.5:c.224A>T | ENSP00000387784.1:p.Gln75Leu | |
| ENST00000451331.1:c.53A>T | ENSP00000393899.1:p.Gln18Leu | |
| NM_005633.3:c.224A>T , LRG_754t1:c.224A>T | NP_005624.2:p.Gln75Leu | |
| XM_005264515.3:c.224A>T | XP_005264572.1:p.Gln75Leu | |
| XM_011533060.1:c.317A>T | XP_011531362.1:p.Gln106Leu | |
| XM_011533061.1:c.317A>T | XP_011531363.1:p.Gln106Leu | |
| XM_011533062.1:c.203A>T | XP_011531364.1:p.Gln68Leu | |
| XM_011533063.1:c.200A>T | XP_011531365.1:p.Gln67Leu | |
| XM_011533064.1:c.53A>T | XP_011531366.1:p.Gln18Leu | |
| XM_011533065.1:c.317A>T | XP_011531367.1:p.Gln106Leu | |
| XM_005264515.4:c.224A>T | XP_005264572.1:p.Gln75Leu | |
| XM_011533062.2:c.203A>T | XP_011531364.1:p.Gln68Leu | |
| XM_011533064.2:c.53A>T | XP_011531366.1:p.Gln18Leu | |
| NM_001382394.1:c.203A>T | NP_001369323.1:p.Gln68Leu | |
| NM_001382395.1:c.224A>T | NP_001369324.1:p.Gln75Leu | |
| NM_005633.4:c.224A>T MANE Select | NP_005624.2:p.Gln75Leu |