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Canonical Allele Identifier:
CA414796736
Gene: MT-ATP8
HGNC
NCBI
MT-ATP6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
918019
ClinVar RCV Id:
RCV001175266
dbSNP Id:
rs1603221589
MyVariant Identifiers:
chrMT:g.8568C>T (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8568C>T , J01415.2:m.8568C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.203C>T
(MT-ATP8)
ENSP00000355265.1:p.Ser68Phe
ENST00000361899.2:c.42C>T
(MT-ATP6)
ENSP00000354632.2:p.Ile14=
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