Canonical Allele Identifier: CA414772855
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1684907
ClinVar RCV Id: RCV002247999
dbSNP Id: rs1603218973
MyVariant Identifiers: chrMT:g.3472T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3472T>C , J01415.2:m.3472T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.166T>C ENSP00000354687.2:p.Phe56Leu