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Canonical Allele Identifier:
CA337098448
Gene: MT-CO3
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.9540T>C
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003887814
ClinVar Variation:
3027421
dbSNP:
2248727
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9540T>C , J01415.2:m.9540T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000362079.2:c.334T>C
ENSP00000354982.2:p.Leu112=
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