Revel Score:
ENST00000393655 (MANE Select)
0.984
ENST00000263046
0.984
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50838051C>T , CM000668.2:g.50838051C>T | GRCh38 |
| NC_000006.11:g.50805764C>T , CM000668.1:g.50805764C>T | GRCh37 |
| NC_000006.10:g.50913723C>T | NCBI36 |
| NG_008438.1:g.24326C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393655.4:c.898C>T MANE Select | ENSP00000377265.2:p.Arg300Cys | |
| ENST00000393655.3:c.898C>T | ENSP00000377265.2:p.Arg300Cys | |
| NM_003221.3:c.898C>T | NP_003212.2:p.Arg300Cys | |
| XM_006715176.2:c.898C>T | XP_006715239.1:p.Arg300Cys | |
| XM_006715177.2:c.844C>T | XP_006715240.1:p.Arg282Cys | |
| XM_011514834.1:c.925C>T | XP_011513136.1:p.Arg309Cys | |
| XM_011514835.1:c.925C>T | XP_011513137.1:p.Arg309Cys | |
| XM_011514836.1:c.925C>T | XP_011513138.1:p.Arg309Cys | |
| XM_011514837.1:c.925C>T | XP_011513139.1:p.Arg309Cys | |
| XM_011514837.2:c.925C>T | XP_011513139.1:p.Arg309Cys | |
| XM_017011233.1:c.1063C>T | XP_016866722.1:p.Arg355Cys | |
| XM_017011234.1:c.1027C>T | XP_016866723.1:p.Arg343Cys | |
| XM_017011235.2:c.439C>T | XP_016866724.1:p.Arg147Cys | |
| NM_003221.4:c.898C>T MANE Select | NP_003212.2:p.Arg300Cys |