Revel Score:
ENST00000344887 (MANE Select)
0.926
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151892C>A , CM000681.2:g.55151892C>A | GRCh38 |
| NC_000019.9:g.55663260C>A , CM000681.1:g.55663260C>A | GRCh37 |
| NC_000019.8:g.60355072C>A | NCBI36 |
| NG_007866.2:g.10841G>T , LRG_432:g.10841G>T | |
| NG_011829.2:g.2347G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.575G>T MANE Select | ENSP00000341838.5:p.Arg192Leu | |
| ENST00000665070.1:c.608G>T | ENSP00000499482.1:p.Arg203Leu | |
| ENST00000344887.9:c.575G>T | ENSP00000341838.5:p.Arg192Leu | |
| ENST00000585806.5:n.574G>T | ||
| ENST00000588882.1:c.500G>T | ENSP00000466729.1:p.Arg167Leu | |
| ENST00000589864.1:n.403G>T | ||
| NM_000363.4:c.575G>T , LRG_432t1:c.575G>T | NP_000354.4:p.Arg192Leu | |
| NM_000363.5:c.575G>T MANE Select | NP_000354.4:p.Arg192Leu |