Linked Data
ClinVar Variation Id:
444871
ClinVar RCV Id:
RCV000513483
dbSNP Id:
rs1557211306
PubMed:
PMID:28805828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154478284C>A , CM000685.2:g.154478284C>A | GRCh38 |
| NC_000023.10:g.153706623C>A , CM000685.1:g.153706623C>A | GRCh37 |
| NC_000023.9:g.153359817C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357360.5:c.316G>T MANE Select | ENSP00000349923.4:p.Val106Phe | |
| ENST00000357360.4:c.316G>T | ENSP00000349923.4:p.Val106Phe | |
| ENST00000621786.1:c.302G>T | ENSP00000478022.1:p.Arg101Leu | |
| NM_006014.4:c.316G>T | NP_006005.2:p.Val106Phe | |
| NM_006014.5:c.316G>T MANE Select | NP_006005.2:p.Val106Phe |