Linked Data
ClinVar Variation Id:
402168
ClinVar RCV Id:
RCV000454257
dbSNP Id:
rs1060499751
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153659157C>T , CM000663.2:g.153659157C>T | GRCh38 |
| NC_000001.10:g.153631633C>T , CM000663.1:g.153631633C>T | GRCh37 |
| NC_000001.9:g.151898257C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368685.6:c.163C>T MANE Select | ENSP00000357674.5:p.Arg55Trp | |
| ENST00000368685.5:c.163C>T | ENSP00000357674.5:p.Arg55Trp | |
| ENST00000462880.1:n.173+271C>T | ||
| ENST00000474959.5:n.446C>T | ||
| ENST00000478558.1:n.431C>T | ||
| NM_012437.5:c.163C>T | NP_036569.1:p.Arg55Trp | |
| NR_052019.1:n.233+271C>T | ||
| NR_052020.1:n.219+285C>T | ||
| NM_012437.6:c.163C>T MANE Select | NP_036569.1:p.Arg55Trp |