MyVariant.info:
GRCh38
chrMT:g.11299T>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.11299T>C , J01415.2:m.11299T>C | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361381.2:c.540T>C | ENSP00000354961.2:p.Thr180= |