Canonical Allele Identifier: CA913169451
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 994648
ClinVar RCV Id: RCV001288249
dbSNP Id: rs1603218988

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3504T>C , J01415.2:m.3504T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.198T>C ENSP00000354687.2:p.Ser66=