Canonical Allele Identifier: CA120627
Gene: MT-ND6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9694
ClinVar RCV Id: RCV000010333 RCV000010334 RCV000144020 RCV002247307 RCV003162239
dbSNP Id: rs199476109
MyVariant Identifiers: chrMT:g.14487T>C (hg38)
ERepo: CA120627/MONDO:0044970/014
PubMed: PMID:12205655 PMID:14520668 PMID:14595656 PMID:14684687 PMID:15576045 PMID:20301352
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.14487T>C , J01415.2:m.14487T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361681.2:c.187A>G ENSP00000354665.2:p.Met63Val
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