Linked Data
ClinVar Variation Id:
281254
dbSNP Id:
rs749099493
ExAC:
15:42686487 C / T
gnomAD v2:
15-42686487-C-T
gnomAD v3:
15-42394289-C-T
gnomAD v4:
15-42394289-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42394289C>T , CM000677.2:g.42394289C>T | GRCh38 |
| NC_000015.9:g.42686487C>T , CM000677.1:g.42686487C>T | GRCh37 |
| NC_000015.8:g.40473779C>T | NCBI36 |
| NG_008660.1:g.51187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.919C>T | ENSP00000183936.4:p.Arg307Trp | |
| ENST00000357568.8:c.1063C>T | ENSP00000350181.3:p.Arg355Trp | |
| ENST00000397163.8:c.1063C>T MANE Select | ENSP00000380349.3:p.Arg355Trp | |
| ENST00000466369.5:n.1572C>T | ||
| ENST00000483208.5:n.1294C>T | ||
| ENST00000495723.1:n.1294C>T | ||
| ENST00000549793.5:n.1294C>T | ||
| ENST00000638141.2:n.934C>T | ||
| ENST00000673658.1:n.47C>T | ||
| ENST00000673705.1:c.71-2511C>T | ENSP00000501021.1:n.71-2511C>T | |
| ENST00000318023.11:c.919C>T | ENSP00000326281.8:p.Arg307Trp | |
| ENST00000349748.7:c.919C>T | ENSP00000183936.4:p.Arg307Trp | |
| ENST00000357568.7:c.1063C>T | ENSP00000350181.3:p.Arg355Trp | |
| ENST00000397163.7:c.1063C>T | ENSP00000380349.3:p.Arg355Trp | |
| NM_000070.2:c.1063C>T | NP_000061.1:p.Arg355Trp | |
| NM_024344.1:c.1063C>T | NP_077320.1:p.Arg355Trp | |
| NM_173087.1:c.919C>T | NP_775110.1:p.Arg307Trp | |
| NM_000070.3:c.1063C>T MANE Select | NP_000061.1:p.Arg355Trp | |
| NM_024344.2:c.1063C>T | NP_077320.1:p.Arg355Trp | |
| NM_173087.2:c.919C>T | NP_775110.1:p.Arg307Trp |