Revel Score:
ENST00000371447 (MANE Select)
0.907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93662104G>A , CM000672.2:g.93662104G>A | GRCh38 |
| NC_000010.10:g.95421861G>A , CM000672.1:g.95421861G>A | GRCh37 |
| NC_000010.9:g.95411851G>A | NCBI36 |
| NG_016752.1:g.54517G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371447.4:c.2254G>A MANE Select | ENSP00000360502.3:p.Glu752Lys | |
| ENST00000371447.3:c.2254G>A | ENSP00000360502.3:p.Glu752Lys | |
| ENST00000475427.2:n.49G>A | ||
| NM_006204.3:c.2254G>A | NP_006195.3:p.Glu752Lys | |
| NM_006204.4:c.2254G>A MANE Select | NP_006195.3:p.Glu752Lys |