ClinGen Allele Registry
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Canonical Allele Identifier:
CA246483153
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.20162077C>G
GRCh37
chr13:g.20736216C>G
Linked Data - Sequence & Population
gnomAD v2:
13:20736216 C / G
gnomAD v3:
13:20162077 C / G
gnomAD v4:
chr13-20162077-C-G
Joint Max Group AF
0.14072521 (AFR)
Genomes Max Group AF
0.14072521 (AFR)
Linked Data - NCBI & NCI
dbSNP:
6490525
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.20162077C>G , CM000675.2:g.20162077C>G
GRCh38
NC_000013.10:g.20736216C>G , CM000675.1:g.20736216C>G
GRCh37
NC_000013.9:g.19634216C>G
NCBI36
NG_016399.1:g.3968G>C
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