Revel Score:
ENST00000426263 (MANE Select)
0.876
ENST00000372501
0.876
ENST00000397019
0.876
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929009G>A , CM000663.2:g.42929009G>A | GRCh38 |
| NC_000001.10:g.43394680G>A , CM000663.1:g.43394680G>A | GRCh37 |
| NC_000001.9:g.43167267G>A | NCBI36 |
| NG_008232.1:g.35168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.997C>T MANE Select | ENSP00000416293.2:p.Arg333Trp | |
| ENST00000674545.1:n.491C>T | ||
| ENST00000674765.1:c.997C>T | ENSP00000501811.1:p.Arg333Trp | |
| ENST00000675112.1:n.1298C>T | ||
| ENST00000676254.1:n.1446C>T | ||
| ENST00000426263.7:c.997C>T | ENSP00000416293.2:p.Arg333Trp | |
| ENST00000475162.3:c.415+1617C>T | ||
| ENST00000630287.2:c.*312C>T | ENSP00000486694.1:n.*312C>T | |
| NM_006516.2:c.997C>T | NP_006507.2:p.Arg333Trp | |
| NM_006516.3:c.997C>T | NP_006507.2:p.Arg333Trp | |
| NM_006516.4:c.997C>T MANE Select | NP_006507.2:p.Arg333Trp |