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Canonical Allele Identifier:
CA337096830
Gene: MT-ND1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.4248T>C
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000992369
ClinVar Variation:
805053
dbSNP:
9326618
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4248T>C , J01415.2:m.4248T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.942T>C
ENSP00000354687.2:p.Ile314=
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