Linked Data
ClinVar Variation Id:
140588
ClinVar RCV Id:
RCV000128803
dbSNP Id:
rs193302982
MyVariant Identifiers:
chrMT:g.14783T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.14783T>C , J01415.2:m.14783T>C | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361789.2:c.37T>C | ENSP00000354554.2:p.Leu13= |