Canonical Allele Identifier: CA414774093
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692417
ClinVar RCV Id: RCV000853727
dbSNP Id: rs1603219279
MyVariant Identifiers: chrMT:g.4055T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4055T>C , J01415.2:m.4055T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.749T>C ENSP00000354687.2:p.Leu250Pro
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