Revel Score:
ENST00000344887 (MANE Select)
0.934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151892C>G , CM000681.2:g.55151892C>G | GRCh38 |
| NC_000019.9:g.55663260C>G , CM000681.1:g.55663260C>G | GRCh37 |
| NC_000019.8:g.60355072C>G | NCBI36 |
| NG_007866.2:g.10841G>C , LRG_432:g.10841G>C | |
| NG_011829.2:g.2347G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.575G>C MANE Select | ENSP00000341838.5:p.Arg192Pro | |
| ENST00000665070.1:c.608G>C | ENSP00000499482.1:p.Arg203Pro | |
| ENST00000344887.9:c.575G>C | ENSP00000341838.5:p.Arg192Pro | |
| ENST00000585806.5:n.574G>C | ||
| ENST00000588882.1:c.500G>C | ENSP00000466729.1:p.Arg167Pro | |
| ENST00000589864.1:n.403G>C | ||
| NM_000363.4:c.575G>C , LRG_432t1:c.575G>C | NP_000354.4:p.Arg192Pro | |
| NM_000363.5:c.575G>C MANE Select | NP_000354.4:p.Arg192Pro |