Revel Score:
ENST00000304611 (MANE Select)
0.953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42965262G>A , CM000668.2:g.42965262G>A | GRCh38 |
| NC_000006.11:g.42933000G>A , CM000668.1:g.42933000G>A | GRCh37 |
| NC_000006.10:g.43040978G>A | NCBI36 |
| NG_008370.1:g.18982C>T | |
| NG_008396.1:g.9501G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2578C>T MANE Select | ENSP00000303511.8:p.Arg860Trp | |
| ENST00000244546.4:c.2331C>T | ENSP00000244546.4:n.2331C>T | |
| ENST00000304611.12:c.2578C>T | ENSP00000303511.8:p.Arg860Trp | |
| NM_000287.3:c.2578C>T | NP_000278.3:p.Arg860Trp | |
| NM_001316313.1:c.2314C>T | NP_001303242.1:p.Arg772Trp | |
| NR_133009.1:n.2424C>T | ||
| XM_011514661.1:c.2494C>T | XP_011512963.1:p.Arg832Trp | |
| XM_011514661.2:c.2494C>T | XP_011512963.1:p.Arg832Trp | |
| XR_001743466.2:n.3540C>T | ||
| NM_000287.4:c.2578C>T MANE Select | NP_000278.3:p.Arg860Trp | |
| NM_001316313.2:c.2314C>T | NP_001303242.1:p.Arg772Trp | |
| NR_133009.2:n.2362C>T |