Revel Score:
ENST00000455537 (MANE Select)
0.902
ENST00000286452
0.902
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57569274C>T , CM000674.2:g.57569274C>T | GRCh38 |
| NC_000012.11:g.57963057C>T , CM000674.1:g.57963057C>T | GRCh37 |
| NC_000012.10:g.56249324C>T | NCBI36 |
| NG_008155.1:g.24211C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.838C>T MANE Select | ENSP00000408979.2:p.Arg280Cys | |
| ENST00000674619.1:c.838C>T | ENSP00000502270.1:p.Arg280Cys | |
| ENST00000676457.1:c.733C>T | ENSP00000501588.1:p.Arg245Cys | |
| ENST00000286452.5:c.571C>T | ENSP00000286452.5:p.Arg191Cys | |
| ENST00000455537.6:c.838C>T | ENSP00000408979.2:p.Arg280Cys | |
| NM_004984.2:c.838C>T | NP_004975.2:p.Arg280Cys | |
| NM_001354705.1:c.571C>T | NP_001341634.1:p.Arg191Cys | |
| NM_004984.3:c.838C>T | NP_004975.2:p.Arg280Cys | |
| XR_002957324.1:n.1071C>T | ||
| NM_004984.4:c.838C>T MANE Select | NP_004975.2:p.Arg280Cys | |
| NM_001354705.2:c.571C>T | NP_001341634.1:p.Arg191Cys |