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Canonical Allele Identifier:
CA11118149
Gene:
Linked Data - Expert Curation
COSMIC:
COSN17894402 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.72887223A>C
GRCh37
chr2:g.73114352A>C
Linked Data - Sequence & Population
gnomAD v2:
2:73114352 A / C
gnomAD v3:
2:72887223 A / C
gnomAD v4:
chr2-72887223-A-C
Joint Max Group AF
0.92235282 (EAS)
Genomes Max Group AF
0.91217674 (EAS)
Exomes Max Group AF
0.92070233 (EAS)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001516752
RCV001698776
ClinVar Variation:
1167479
dbSNP:
1876487
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.72887223A>C , CM000664.2:g.72887223A>C
GRCh38
NC_000002.11:g.73114352A>C , CM000664.1:g.73114352A>C
GRCh37
NC_000002.10:g.72967860A>C
NCBI36
NG_008234.1:g.4841A>C
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