Canonical Allele Identifier: CA120647
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9733
ClinVar RCV Id: RCV000010385 RCV000010386 RCV000056168 RCV002221474 RCV003298030
dbSNP Id: rs199476122
COSMIC: COSM6119903 COSM6119904
MyVariant Identifiers: chrMT:g.3697G>A (hg38)
ERepo: CA120647/MONDO:0044970/014
PubMed: PMID:15466014 PMID:17562939 PMID:20301353
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3697G>A , J01415.2:m.3697G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361390.2:c.391G>A ENSP00000354687.2:p.Gly131Ser
Search 100 bp 5'
Search 100 bp 3'