Revel Score:
ENST00000274576 (MANE Select)
0.862
ENST00000455880
0.862
ENST00000545569
0.862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851420C>A , CM000667.2:g.151851420C>A | GRCh38 |
| NC_000005.9:g.151230981C>A , CM000667.1:g.151230981C>A | GRCh37 |
| NC_000005.8:g.151211174C>A | NCBI36 |
| NG_011764.1:g.78417G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.882G>T MANE Select | ENSP00000274576.5:p.Gln294His | |
| ENST00000274576.8:c.882G>T | ENSP00000274576.4:p.Gln294His | |
| ENST00000455880.2:c.882G>T | ENSP00000411593.2:p.Gln294His | |
| ENST00000462581.6:c.*640G>T | ENSP00000430595.1:n.*640G>T | |
| ENST00000471351.2:n.1165G>T | ||
| NM_000171.3:c.882G>T | NP_000162.2:p.Gln294His | |
| NM_001146040.1:c.882G>T | NP_001139512.1:p.Gln294His | |
| NM_001292000.1:c.633G>T | NP_001278929.1:p.Gln211His | |
| XM_005268412.2:c.882G>T | XP_005268469.1:p.Gln294His | |
| NM_000171.4:c.882G>T MANE Select | NP_000162.2:p.Gln294His | |
| NM_001146040.2:c.882G>T | NP_001139512.1:p.Gln294His | |
| NM_001292000.2:c.633G>T | NP_001278929.1:p.Gln211His |