Linked Data
ClinVar Variation Id:
370053
ClinVar RCV Id:
RCV000408919
dbSNP Id:
rs879025367
MyVariant Identifiers:
chrMT:g.11815C>G (hg38)
PubMed:
PMID:28027978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.11815C>G , J01415.2:m.11815C>G | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361381.2:c.1056C>G | ENSP00000354961.2:p.Leu352= |