Revel Score:
ENST00000258198 (MANE Select)
0.237
ENST00000379482
0.237
ENST00000440564
0.237
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66742561C>T , CM000678.2:g.66742561C>T | GRCh38 |
| NC_000016.9:g.66776464C>T , CM000678.1:g.66776464C>T | GRCh37 |
| NC_000016.8:g.65333965C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258198.7:c.406G>A MANE Select | ENSP00000258198.2:p.Val136Ile | |
| ENST00000258198.6:c.406G>A | ENSP00000258198.2:p.Val136Ile | |
| ENST00000440564.6:c.289G>A | ENSP00000408566.2:p.Val97Ile | |
| ENST00000443351.6:c.299-6317G>A | ENSP00000394289.2:n.299-6317G>A | |
| ENST00000564090.1:c.*323G>A | ENSP00000463124.1:n.*323G>A | |
| ENST00000566150.5:c.299-7G>A | ENSP00000457707.1:n.299-7G>A | |
| ENST00000568180.6:c.*192G>A | ENSP00000457464.2:n.*192G>A | |
| NM_001286157.1:c.299-6317G>A | NP_001273086.1:n.299-6317G>A | |
| NM_006141.2:c.406G>A | NP_006132.1:p.Val136Ile | |
| XR_933225.1:n.436G>A | ||
| NM_001323955.1:c.289G>A | NP_001310884.1:p.Val97Ile | |
| NR_136658.1:n.643G>A | ||
| XM_017023008.2:c.406G>A | XP_016878497.1:p.Val136Ile | |
| NM_006141.3:c.406G>A MANE Select | NP_006132.1:p.Val136Ile | |
| NM_001286157.2:c.299-6317G>A | NP_001273086.1:n.299-6317G>A | |
| NM_001323955.2:c.289G>A | NP_001310884.1:p.Val97Ile | |
| NR_136658.2:n.424G>A |