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Canonical Allele Identifier:
CA270601
Gene: MT-CYB
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.14891C>G
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000133407
ClinVar Variation:
143868
dbSNP:
386419981
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14891C>G , J01415.2:m.14891C>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.145C>G
ENSP00000354554.2:p.Leu49Val
Search 100 bp 5'
Search 100 bp 3'