Revel Score:
ENST00000426263 (MANE Select)
0.918
ENST00000372501
0.918
ENST00000397019
0.918
ENST00000415851
0.918
ENST00000372500
0.918
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42931047G>A , CM000663.2:g.42931047G>A | GRCh38 |
| NC_000001.10:g.43396718G>A , CM000663.1:g.43396718G>A | GRCh37 |
| NC_000001.9:g.43169305G>A | NCBI36 |
| NG_008232.1:g.33130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.274C>T MANE Select | ENSP00000416293.2:p.Arg92Trp | |
| ENST00000674765.1:c.274C>T | ENSP00000501811.1:p.Arg92Trp | |
| ENST00000675112.1:n.297C>T | ||
| ENST00000676254.1:n.723C>T | ||
| ENST00000372500.4:c.178C>T | ENSP00000361578.4:p.Arg60Trp | |
| ENST00000415851.6:n.491C>T | ||
| ENST00000426263.7:c.274C>T | ENSP00000416293.2:p.Arg92Trp | |
| ENST00000439722.2:c.79C>T | ENSP00000395521.2:p.Arg27Trp | |
| ENST00000475162.3:c.173C>T | ||
| ENST00000625233.2:n.482C>T | ||
| ENST00000630287.2:c.274C>T | ENSP00000486694.1:p.Arg92Trp | |
| NM_006516.2:c.274C>T | NP_006507.2:p.Arg92Trp | |
| NM_006516.3:c.274C>T | NP_006507.2:p.Arg92Trp | |
| NM_006516.4:c.274C>T MANE Select | NP_006507.2:p.Arg92Trp |