Canonical Allele Identifier: CA340943
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9724
ClinVar RCV Id: RCV000010373 RCV000709875 RCV000853749
dbSNP Id: rs1599988
COSMIC: COSM1138370 COSM1138371
MyVariant Identifiers: chrMT:g.4216T>C (hg38)
PubMed: PMID:1732158 PMID:1900003 PMID:7635294 PMID:20301353
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4216T>C , J01415.2:m.4216T>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361390.2:c.910T>C ENSP00000354687.2:p.Tyr304His
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