Revel Score:
ENST00000311895 (MANE Select)
0.518
ENST00000389138
0.518
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948034T>G , CM000678.2:g.13948034T>G | GRCh38 |
| NC_000016.9:g.14041891T>G , CM000678.1:g.14041891T>G | GRCh37 |
| NC_000016.8:g.13949392T>G | NCBI36 |
| NG_011442.1:g.32878T>G , LRG_463:g.32878T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2576T>G | ENSP00000507912.1:p.Phe859Cys | |
| ENST00000683962.1:c.*2132T>G | ENSP00000506854.1:n.*2132T>G | |
| ENST00000311895.8:c.2438T>G MANE Select | ENSP00000310520.7:p.Phe813Cys | |
| ENST00000311895.7:c.2438T>G | ENSP00000310520.7:p.Phe813Cys | |
| ENST00000389138.7:n.1715T>G | ||
| NM_005236.2:c.2438T>G , LRG_463t1:c.2438T>G | NP_005227.1:p.Phe813Cys | |
| XM_011522424.1:c.2576T>G | XP_011520726.1:p.Phe859Cys | |
| XM_011522425.1:c.1895T>G | XP_011520727.1:p.Phe632Cys | |
| XM_011522426.1:c.1649T>G | XP_011520728.1:p.Phe550Cys | |
| XM_011522427.1:c.1088T>G | XP_011520729.1:p.Phe363Cys | |
| XR_932805.1:n.2597T>G | ||
| XM_011522424.3:c.2576T>G | XP_011520726.1:p.Phe859Cys | |
| XM_017023043.2:c.1649T>G | XP_016878532.1:p.Phe550Cys | |
| NM_005236.3:c.2438T>G MANE Select | NP_005227.1:p.Phe813Cys |