Linked Data
ClinVar Variation Id:
430623
ClinVar RCV Id:
RCV000494724
dbSNP Id:
rs1131692048
PubMed:
PMID:28575651
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.132785372G>C , CM000672.2:g.132785372G>C | GRCh38 |
| NC_000010.10:g.134598876G>C , CM000672.1:g.134598876G>C | GRCh37 |
| NC_000010.9:g.134448866G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368592.8:c.487C>G MANE Select | ENSP00000357581.5:p.Leu163Val | |
| ENST00000368592.7:c.487C>G | ENSP00000357581.5:p.Leu163Val | |
| NM_177400.2:c.487C>G | NP_796374.1:p.Leu163Val | |
| XM_017016789.2:c.487C>G | XP_016872278.1:p.Leu163Val | |
| NM_177400.3:c.487C>G MANE Select | NP_796374.2:p.Leu163Val |