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Canonical Allele Identifier:
CA199769
Gene: MT-ATP6
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.8969G>A
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171545
RCV000854381
RCV002247579
RCV002260628
ClinVar Variation:
191364
dbSNP:
794726857
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8969G>A , J01415.2:m.8969G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361899.2:c.443G>A
ENSP00000354632.2:p.Ser148Asn
Search 100 bp 5'
Search 100 bp 3'