Revel Score:
ENST00000311907 (MANE Select)
0.344
ENST00000530231
0.344
ENST00000442468
0.344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725898A>T , CM000673.2:g.46725898A>T | GRCh38 |
| NC_000011.9:g.46747448A>T , CM000673.1:g.46747448A>T | GRCh37 |
| NC_000011.8:g.46704024A>T | NCBI36 |
| NG_008953.1:g.11706A>T , LRG_551:g.11706A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.599A>T MANE Select | ENSP00000308541.5:p.Glu200Val | |
| ENST00000311907.9:c.599A>T | ENSP00000308541.5:p.Glu200Val | |
| ENST00000442468.1:c.569A>T | ENSP00000387413.1:p.Glu190Val | |
| ENST00000490274.1:n.379A>T | ||
| ENST00000530231.5:c.599A>T | ENSP00000433907.1:p.Glu200Val | |
| NM_000506.3:c.599A>T | NP_000497.1:p.Glu200Val | |
| NM_000506.4:c.599A>T , LRG_551t1:c.599A>T | NP_000497.1:p.Glu200Val | |
| NM_001311257.1:c.551A>T | NP_001298186.1:p.Glu184Val | |
| XR_428840.2:n.643A>T | ||
| XR_428840.4:n.634A>T | ||
| NM_000506.5:c.599A>T MANE Select | NP_000497.1:p.Glu200Val | |
| NM_001311257.2:c.551A>T | NP_001298186.1:p.Glu184Val |