ClinGen Allele Registry
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Canonical Allele Identifier:
CA14791399
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.57560878C>G
GRCh37
chr20:g.56135934C>G
Linked Data - Sequence & Population
gnomAD v2:
20:56135934 C / G
gnomAD v3:
20:57560878 C / G
gnomAD v4:
chr20-57560878-C-G
Joint Max Group AF
0.48179605 (MID)
Genomes Max Group AF
0.45290608 (NFE)
Linked Data - NCBI & NCI
dbSNP:
2071023
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.57560878C>G , CM000682.2:g.57560878C>G
GRCh38
NC_000020.10:g.56135934C>G , CM000682.1:g.56135934C>G
GRCh37
NC_000020.9:g.55569340C>G
NCBI36
NG_008205.1:g.4798C>G
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