ClinGen Allele Registry
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Canonical Allele Identifier:
CA270385171
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr15:g.47180971A>C
GRCh37
chr15:g.47473168A>C
Linked Data - Sequence & Population
gnomAD v2:
15:47473168 A / C
gnomAD v3:
15:47180971 A / C
gnomAD v4:
chr15-47180971-A-C
Joint Max Group AF
0.54172852 (NFE)
Genomes Max Group AF
0.54172852 (NFE)
Linked Data - NCBI & NCI
dbSNP:
4775671
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.47180971A>C , CM000677.2:g.47180971A>C
GRCh38
NC_000015.9:g.47473168A>C , CM000677.1:g.47473168A>C
GRCh37
NC_000015.8:g.45260460A>C
NCBI36
NG_029119.1:g.1766A>C
NG_029119.2:g.1766A>C
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