Canonical Allele Identifier: CA414812654
Gene: MT-ND4 HGNC NCBI

Linked Data

ClinVar Variation Id: 693417
ClinVar RCV Id: RCV000854785
dbSNP Id: rs1603223562
MyVariant Identifiers: chrMT:g.12134T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.12134T>C , J01415.2:m.12134T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361381.2:c.1375T>C ENSP00000354961.2:p.Ser459Pro