Revel Score:
ENST00000218104 (MANE Select)
0.962
ENST00000370129
0.962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153726062G>T , CM000685.2:g.153726062G>T | GRCh38 |
| NC_000023.10:g.152991517G>T , CM000685.1:g.152991517G>T | GRCh37 |
| NC_000023.9:g.152644711G>T | NCBI36 |
| NG_009022.2:g.6195G>T | |
| NG_023231.1:g.3685C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.796G>T MANE Select | ENSP00000218104.3:p.Gly266Trp | |
| ENST00000218104.5:c.796G>T | ENSP00000218104.3:p.Gly266Trp | |
| ENST00000370129.4:c.241G>T | ENSP00000359147.3:p.Gly81Trp | |
| NM_000033.3:c.796G>T | NP_000024.2:p.Gly266Trp | |
| XR_938507.1:n.1212G>T | ||
| XR_938507.2:n.1212G>T | ||
| NM_000033.4:c.796G>T MANE Select | NP_000024.2:p.Gly266Trp |