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Canonical Allele Identifier:
CA337099754
Gene: MT-ND5
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.13617T>C
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005435788
ClinVar Variation:
3911720
dbSNP:
2853503
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13617T>C , J01415.2:m.13617T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.1281T>C
ENSP00000354813.2:p.Ile427=
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