Revel Score:
ENST00000426263 (MANE Select)
0.556
ENST00000372501
0.556
ENST00000397019
0.556
ENST00000439722
0.556
ENST00000372500
0.556
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930649C>T , CM000663.2:g.42930649C>T | GRCh38 |
| NC_000001.10:g.43396320C>T , CM000663.1:g.43396320C>T | GRCh37 |
| NC_000001.9:g.43168907C>T | NCBI36 |
| NG_008232.1:g.33528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.493G>A MANE Select | ENSP00000416293.2:p.Val165Ile | |
| ENST00000674765.1:c.493G>A | ENSP00000501811.1:p.Val165Ile | |
| ENST00000675112.1:n.516G>A | ||
| ENST00000676254.1:n.942G>A | ||
| ENST00000426263.7:c.493G>A | ENSP00000416293.2:p.Val165Ile | |
| ENST00000439722.2:c.372G>A | ENSP00000395521.2:n.372G>A | |
| ENST00000475162.3:c.392G>A | ||
| ENST00000625233.2:n.701G>A | ||
| ENST00000630287.2:c.493G>A | ENSP00000486694.1:p.Val165Ile | |
| NM_006516.2:c.493G>A | NP_006507.2:p.Val165Ile | |
| NM_006516.3:c.493G>A | NP_006507.2:p.Val165Ile | |
| NM_006516.4:c.493G>A MANE Select | NP_006507.2:p.Val165Ile |