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Canonical Allele Identifier:
CA340945
Gene: MT-ND1
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.3308T>C
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010379
RCV000010380
RCV000239184
RCV000853627
ClinVar Variation:
9728
dbSNP:
28358582
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3308T>C , J01415.2:m.3308T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361390.2:c.2T>C
ENSP00000354687.2:p.Ile1Thr
Search 100 bp 5'
Search 100 bp 3'