Linked Data
ClinVar Variation Id:
254248
ClinVar RCV Id:
RCV000240854
dbSNP Id:
rs886037932
PubMed:
PMID:27130255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225921232A>G , CM000663.2:g.225921232A>G | GRCh38 |
| NC_000001.10:g.226108932A>G , CM000663.1:g.226108932A>G | GRCh37 |
| NC_000001.9:g.224175555A>G | NCBI36 |
| NG_044963.1:g.8109T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343818.11:c.773T>C MANE Select | ENSP00000342502.6:p.Val258Ala | |
| ENST00000343818.10:c.773T>C | ENSP00000342502.6:p.Val258Ala | |
| ENST00000432920.2:c.551T>C | ENSP00000414068.2:p.Val184Ala | |
| ENST00000446534.1:n.1331T>C | ||
| ENST00000466127.1:n.490T>C | ||
| ENST00000478402.5:n.2382T>C | ||
| ENST00000612039.4:c.551T>C | ENSP00000478165.1:p.Val184Ala | |
| ENST00000612651.4:c.770T>C | ENSP00000482845.1:p.Val257Ala | |
| NM_001271681.1:c.551T>C | NP_001258610.1:p.Val184Ala | |
| NM_013328.3:c.773T>C | NP_037460.2:p.Val258Ala | |
| NM_013328.4:c.773T>C MANE Select | NP_037460.2:p.Val258Ala | |
| NM_001271681.2:c.551T>C | NP_001258610.1:p.Val184Ala |