Canonical Allele Identifier: CA913177052
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 805051
ClinVar RCV Id: RCV000992367
dbSNP Id: rs1603219333

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4167C>T , J01415.2:m.4167C>T GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361390.2:c.861C>T ENSP00000354687.2:p.His287=