ClinGen Allele Registry
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Canonical Allele Identifier:
CA185688679
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.126999601T>C
GRCh37
chr8:g.128011846T>C
Linked Data - Sequence & Population
gnomAD v3:
8:126999601 T / C
gnomAD v4:
chr8-126999601-T-C
Joint Max Group AF
0.00001972 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Linked Data - NCBI & NCI
dbSNP:
978874146
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999601T>C , CM000670.2:g.126999601T>C
GRCh38
NC_000008.10:g.128011846T>C , CM000670.1:g.128011846T>C
GRCh37
NC_000008.9:g.128081028T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1301-6954T>C
Search 100 bp 5'
Search 100 bp 3'