Linked Data
ClinVar Variation Id:
370058
ClinVar RCV Id:
RCV000408932
dbSNP Id:
rs879193643
MyVariant Identifiers:
chrMT:g.13713C>A (hg38)
PubMed:
PMID:28027978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.13713C>A , J01415.2:m.13713C>A | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361567.2:c.1377C>A | ENSP00000354813.2:p.Ala459= |