Revel Score:
ENST00000311907 (MANE Select)
0.391
ENST00000530231
0.391
ENST00000442468
0.391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725910T>A , CM000673.2:g.46725910T>A | GRCh38 |
| NC_000011.9:g.46747460T>A , CM000673.1:g.46747460T>A | GRCh37 |
| NC_000011.8:g.46704036T>A | NCBI36 |
| NG_008953.1:g.11718T>A , LRG_551:g.11718T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.611T>A MANE Select | ENSP00000308541.5:p.Val204Glu | |
| ENST00000311907.9:c.611T>A | ENSP00000308541.5:p.Val204Glu | |
| ENST00000442468.1:c.581T>A | ENSP00000387413.1:p.Val194Glu | |
| ENST00000490274.1:n.391T>A | ||
| ENST00000530231.5:c.611T>A | ENSP00000433907.1:p.Val204Glu | |
| NM_000506.3:c.611T>A | NP_000497.1:p.Val204Glu | |
| NM_000506.4:c.611T>A , LRG_551t1:c.611T>A | NP_000497.1:p.Val204Glu | |
| NM_001311257.1:c.563T>A | NP_001298186.1:p.Val188Glu | |
| XR_428840.2:n.655T>A | ||
| XR_428840.4:n.646T>A | ||
| NM_000506.5:c.611T>A MANE Select | NP_000497.1:p.Val204Glu | |
| NM_001311257.2:c.563T>A | NP_001298186.1:p.Val188Glu |