Canonical Allele Identifier: CA414802159
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 693081
ClinVar RCV Id: RCV000854427
dbSNP Id: rs1603222045
MyVariant Identifiers: chrMT:g.9083T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.9083T>C , J01415.2:m.9083T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.557T>C ENSP00000354632.2:p.Leu186Pro
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