Canonical Allele Identifier: CA337099368
Gene: MT-ND4 HGNC NCBI

Linked Data

ClinVar Variation Id: 693397
ClinVar RCV Id: RCV000854765
dbSNP Id: rs386829144
MyVariant Identifiers: chrMT:g.12011T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12011T>C , J01415.2:m.12011T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361381.2:c.1252T>C ENSP00000354961.2:p.Ser418Pro
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