Revel Score:
ENST00000205557 (MANE Select)
0.492
ENST00000205558
0.492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155025T>C , CM000678.2:g.16155025T>C | GRCh38 |
| NC_000016.9:g.16248882T>C , CM000678.1:g.16248882T>C | GRCh37 |
| NC_000016.8:g.16156383T>C | NCBI36 |
| NG_007558.2:g.73447A>G | |
| NG_007558.3:g.73593A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.752A>G | ||
| ENST00000622290.5:c.*61A>G | ENSP00000483331.2:n.*61A>G | |
| ENST00000205557.12:c.3889A>G MANE Select | ENSP00000205557.7:p.Ile1297Val | |
| ENST00000640696.1:c.703A>G | ENSP00000492197.1:p.Ile235Val | |
| ENST00000205557.11:c.3889A>G | ENSP00000205557.7:p.Ile1297Val | |
| ENST00000456970.6:c.3514A>G | ENSP00000405002.2:n.3514A>G | |
| ENST00000576204.5:n.752A>G | ||
| ENST00000622290.4:c.*1098A>G | ENSP00000483331.1:n.*1098A>G | |
| NM_001171.5:c.3889A>G | NP_001162.4:p.Ile1297Val | |
| XM_011522479.1:c.3856A>G | XP_011520781.1:p.Ile1286Val | |
| XM_011522480.1:c.3547A>G | XP_011520782.1:p.Ile1183Val | |
| XM_011522481.1:c.3547A>G | XP_011520783.1:p.Ile1183Val | |
| XR_932836.1:n.4187A>G | ||
| XR_932837.1:n.3925A>G | ||
| XR_932838.1:n.3988A>G | ||
| XR_933134.1:n.539-4756T>C | ||
| NM_001351800.1:c.3547A>G | NP_001338729.1:p.Ile1183Val | |
| NR_147784.1:n.3551A>G | ||
| XM_011522479.2:c.3856A>G | XP_011520781.1:p.Ile1286Val | |
| XM_011522481.3:c.3547A>G | XP_011520783.1:p.Ile1183Val | |
| XM_017023212.1:c.3721A>G | XP_016878701.1:p.Ile1241Val | |
| XM_024450261.1:c.3925A>G | XP_024306029.1:p.Ile1309Val | |
| XR_932836.2:n.4133A>G | ||
| XR_932837.3:n.3870A>G | ||
| XR_932838.3:n.3933A>G | ||
| NM_001171.6:c.3889A>G MANE Select | NP_001162.5:p.Ile1297Val |