Revel Score:
ENST00000205557 (MANE Select)
0.977
ENST00000205558
0.977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155018C>A , CM000678.2:g.16155018C>A | GRCh38 |
| NC_000016.9:g.16248875C>A , CM000678.1:g.16248875C>A | GRCh37 |
| NC_000016.8:g.16156376C>A | NCBI36 |
| NG_007558.2:g.73454G>T | |
| NG_007558.3:g.73600G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.759G>T | ||
| ENST00000622290.5:c.*68G>T | ENSP00000483331.2:n.*68G>T | |
| ENST00000205557.12:c.3896G>T MANE Select | ENSP00000205557.7:p.Gly1299Val | |
| ENST00000640696.1:c.710G>T | ENSP00000492197.1:p.Gly237Val | |
| ENST00000205557.11:c.3896G>T | ENSP00000205557.7:p.Gly1299Val | |
| ENST00000456970.6:c.3521G>T | ENSP00000405002.2:n.3521G>T | |
| ENST00000576204.5:n.759G>T | ||
| ENST00000622290.4:c.*1105G>T | ENSP00000483331.1:n.*1105G>T | |
| NM_001171.5:c.3896G>T | NP_001162.4:p.Gly1299Val | |
| XM_011522479.1:c.3863G>T | XP_011520781.1:p.Gly1288Val | |
| XM_011522480.1:c.3554G>T | XP_011520782.1:p.Gly1185Val | |
| XM_011522481.1:c.3554G>T | XP_011520783.1:p.Gly1185Val | |
| XR_932836.1:n.4194G>T | ||
| XR_932837.1:n.3932G>T | ||
| XR_932838.1:n.3995G>T | ||
| XR_933134.1:n.539-4763C>A | ||
| NM_001351800.1:c.3554G>T | NP_001338729.1:p.Gly1185Val | |
| NR_147784.1:n.3558G>T | ||
| XM_011522479.2:c.3863G>T | XP_011520781.1:p.Gly1288Val | |
| XM_011522481.3:c.3554G>T | XP_011520783.1:p.Gly1185Val | |
| XM_017023212.1:c.3728G>T | XP_016878701.1:p.Gly1243Val | |
| XM_024450261.1:c.3932G>T | XP_024306029.1:p.Gly1311Val | |
| XR_932836.2:n.4140G>T | ||
| XR_932837.3:n.3877G>T | ||
| XR_932838.3:n.3940G>T | ||
| NM_001171.6:c.3896G>T MANE Select | NP_001162.5:p.Gly1299Val |