Canonical Allele Identifier: CA345920
Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 155891
ClinVar RCV Id: RCV000144023
dbSNP Id: rs587776442
MyVariant Identifiers: chrMT:g.3928G>C (hg38)
PubMed: PMID:20301352 PMID:24063851
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.3928G>C , J01415.2:m.3928G>C GRCh38

Transcript Alleles

HGVS Amino-acid change
ENST00000361390.2:c.622G>C ENSP00000354687.2:p.Val208Leu
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