Revel Score:
ENST00000372748 (MANE Select)
0.288
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40307477T>A , CM000663.2:g.40307477T>A | GRCh38 |
| NC_000001.10:g.40773149T>A , CM000663.1:g.40773149T>A | GRCh37 |
| NC_000001.9:g.40545736T>A | NCBI36 |
| NG_008031.1:g.14791A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372748.8:c.977A>T MANE Select | ENSP00000361834.3:p.Gln326Leu | |
| ENST00000372748.7:c.977A>T | ENSP00000361834.3:p.Gln326Leu | |
| ENST00000482722.5:n.1280A>T | ||
| NM_001852.3:c.977A>T | NP_001843.1:p.Gln326Leu | |
| XM_006710365.2:c.977A>T | XP_006710428.1:p.Gln326Leu | |
| XM_011540714.1:c.989A>T | XP_011539016.1:p.Gln330Leu | |
| XM_011540715.1:c.707A>T | XP_011539017.1:p.Gln236Leu | |
| XM_011540716.1:c.707A>T | XP_011539018.1:p.Gln236Leu | |
| XM_011540717.1:c.434A>T | XP_011539019.1:p.Gln145Leu | |
| XM_011540718.1:c.989A>T | XP_011539020.1:p.Gln330Leu | |
| XM_006710365.3:c.977A>T | XP_006710428.1:p.Gln326Leu | |
| XM_011540715.2:c.707A>T | XP_011539017.1:p.Gln236Leu | |
| XM_011540716.2:c.707A>T | XP_011539018.1:p.Gln236Leu | |
| XM_011540717.2:c.434A>T | XP_011539019.1:p.Gln145Leu | |
| XM_017000332.1:c.989A>T | XP_016855821.1:p.Gln330Leu | |
| XM_017000333.1:c.695A>T | XP_016855822.1:p.Gln232Leu | |
| NM_001852.4:c.977A>T MANE Select | NP_001843.1:p.Gln326Leu |