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Canonical Allele Identifier:
CA414794444
Gene: MT-CO2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.7965T>C
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000509036
ClinVar Variation:
440835
dbSNP:
1556423369
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7965T>C , J01415.2:m.7965T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361739.1:c.380T>C
ENSP00000354876.1:p.Phe127Ser
Search 100 bp 5'
Search 100 bp 3'