Revel Score:
ENST00000474627 (MANE Select)
0.949
ENST00000444058
0.949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18028276A>C , CM000679.2:g.18028276A>C | GRCh38 |
| NC_000017.10:g.17931590A>C , CM000679.1:g.17931590A>C | GRCh37 |
| NC_000017.9:g.17872315A>C | NCBI36 |
| NG_012824.1:g.15891T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474627.8:c.280T>G MANE Select | ENSP00000417190.2:p.Trp94Gly | |
| ENST00000444058.1:c.280T>G | ENSP00000397198.1:p.Trp94Gly | |
| ENST00000462733.5:c.178+339T>G | ENSP00000463920.1:n.178+339T>G | |
| ENST00000474627.7:c.280T>G | ENSP00000417190.2:p.Trp94Gly | |
| ENST00000497871.1:n.468T>G | ||
| ENST00000577586.5:n.431T>G | ||
| ENST00000584205.5:c.178+339T>G | ENSP00000462899.1:n.178+339T>G | |
| ENST00000585101.5:c.178+339T>G | ENSP00000463861.1:n.178+339T>G | |
| NM_145691.3:c.280T>G | NP_663729.1:p.Trp94Gly | |
| XM_005256848.2:c.280T>G | XP_005256905.1:p.Trp94Gly | |
| XM_011524062.1:c.280T>G | XP_011522364.1:p.Trp94Gly | |
| XM_011524063.1:c.280T>G | XP_011522365.1:p.Trp94Gly | |
| XM_011524064.1:c.24+339T>G | XP_011522366.1:n.24+339T>G | |
| XM_011524065.1:c.280T>G | XP_011522367.1:p.Trp94Gly | |
| XR_934116.1:n.436T>G | ||
| XM_005256848.4:c.280T>G | XP_005256905.1:p.Trp94Gly | |
| XM_011524065.2:c.280T>G | XP_011522367.1:p.Trp94Gly | |
| XM_017025302.1:c.24+339T>G | XP_016880791.1:n.24+339T>G | |
| XM_017025303.1:c.24+339T>G | XP_016880792.1:n.24+339T>G | |
| XR_001752677.2:n.435T>G | ||
| NM_145691.4:c.280T>G MANE Select | NP_663729.1:p.Trp94Gly |