Linked Data
ClinVar Variation Id:
370059
ClinVar RCV Id:
RCV000408937
dbSNP Id:
rs1057516069
MyVariant Identifiers:
chrMT:g.14563C>T (hg38)
PubMed:
PMID:28027978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.14563C>T , J01415.2:m.14563C>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361681.2:c.111G>A | ENSP00000354665.2:p.Val37= |