Canonical Allele Identifier: CA120596
Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 9642
ClinVar RCV Id: RCV000010275 RCV000010276 RCV000495030 RCV000754647 RCV000854390 RCV001268873 RCV002247300
dbSNP Id: rs199476133
MyVariant Identifiers: chrMT:g.8993T>C (hg38)
ERepo: CA120596/MONDO:0044970/014
PubMed: PMID:3612192 PMID:8190310 PMID:8395787 PMID:8602753 PMID:9568930 PMID:9762610 PMID:11916326 PMID:16049925 PMID:17663470 PMID:18055910 PMID:20301352
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.8993T>C , J01415.2:m.8993T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361899.2:c.467T>C ENSP00000354632.2:p.Leu156Pro
Search 100 bp 5'
Search 100 bp 3'