Revel Score:
ENST00000393716 (MANE Select)
0.879
ENST00000466380
0.879
ENST00000337940
0.879
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119810155C>T , CM000665.2:g.119810155C>T | GRCh38 |
| NC_000003.11:g.119529002C>T , CM000665.1:g.119529002C>T | GRCh37 |
| NC_000003.10:g.121011692C>T | NCBI36 |
| NG_011856.1:g.34672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.292C>T MANE Select | ENSP00000377319.3:p.Arg98Cys | |
| ENST00000466380.6:c.292C>T | ENSP00000420297.2:p.Arg98Cys | |
| ENST00000337940.4:c.409C>T | ENSP00000336528.4:p.Arg137Cys | |
| ENST00000393716.6:c.292C>T | ENSP00000377319.2:p.Arg98Cys | |
| ENST00000466380.5:c.292C>T | ENSP00000420297.1:p.Arg98Cys | |
| ENST00000474090.1:n.580C>T | ||
| NM_003889.3:c.292C>T | NP_003880.3:p.Arg98Cys | |
| NM_022002.2:c.409C>T | NP_071285.1:p.Arg137Cys | |
| NM_033013.2:c.292C>T | NP_148934.1:p.Arg98Cys | |
| NM_003889.4:c.292C>T MANE Select | NP_003880.3:p.Arg98Cys | |
| NM_022002.3:c.409C>T | NP_071285.1:p.Arg137Cys | |
| NM_033013.3:c.292C>T | NP_148934.1:p.Arg98Cys |