UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
1676315
ClinVar RCV Id:
RCV002221702
dbSNP Id:
rs2015062
MyVariant Identifiers:
chrMT:g.7028C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.7028C>T , J01415.2:m.7028C>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361624.2:c.1125C>T | ENSP00000354499.2:p.Ala375= |