Canonical Allele Identifier: CA913177495
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 805052
ClinVar RCV Id: RCV000992368
dbSNP Id: rs1603219372

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4242C>T , J01415.2:m.4242C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.936C>T ENSP00000354687.2:p.Ser312=