Revel Score:
ENST00000274576 (MANE Select)
0.920
ENST00000455880
0.920
ENST00000545569
0.920
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851597G>T , CM000667.2:g.151851597G>T | GRCh38 |
| NC_000005.9:g.151231158G>T , CM000667.1:g.151231158G>T | GRCh37 |
| NC_000005.8:g.151211351G>T | NCBI36 |
| NG_011764.1:g.78240C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.705C>A MANE Select | ENSP00000274576.5:p.Phe235Leu | |
| ENST00000274576.8:c.705C>A | ENSP00000274576.4:p.Phe235Leu | |
| ENST00000455880.2:c.705C>A | ENSP00000411593.2:p.Phe235Leu | |
| ENST00000462581.6:c.*463C>A | ENSP00000430595.1:n.*463C>A | |
| ENST00000471351.2:n.988C>A | ||
| NM_000171.3:c.705C>A | NP_000162.2:p.Phe235Leu | |
| NM_001146040.1:c.705C>A | NP_001139512.1:p.Phe235Leu | |
| NM_001292000.1:c.456C>A | NP_001278929.1:p.Phe152Leu | |
| XM_005268412.2:c.705C>A | XP_005268469.1:p.Phe235Leu | |
| NM_000171.4:c.705C>A MANE Select | NP_000162.2:p.Phe235Leu | |
| NM_001146040.2:c.705C>A | NP_001139512.1:p.Phe235Leu | |
| NM_001292000.2:c.456C>A | NP_001278929.1:p.Phe152Leu |