Canonical Allele Identifier: CA913169637
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 805047
ClinVar RCV Id: RCV000992362
dbSNP Id: rs1603219017

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3555T>C , J01415.2:m.3555T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.249T>C ENSP00000354687.2:p.Leu83=