Linked Data
ClinVar Variation Id:
805053
ClinVar RCV Id:
RCV000992369
dbSNP Id:
rs9326618
MyVariant Identifiers:
chrMT:g.4248T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.4248T>C , J01415.2:m.4248T>C | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361390.2:c.942T>C | ENSP00000354687.2:p.Ile314= |