Allele Registry

Canonical Allele Identifier: CA13578759

Gene:

Linked Data - Expert Curation

COSMIC:

COSN6617073 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.6839862A>G

GRCh37 chr12:g.6949026A>G

Linked Data - Sequence & Population

gnomAD v2:

12:6949026 A / G

gnomAD v3:

12:6839862 A / G

gnomAD v4:

chr12-6839862-A-G

Joint Max Group AF 0.95877724 (EAS)

Genomes Max Group AF 0.95336163 (EAS)

Exomes Max Group AF 0.94617075 (EAS)

Linked Data - NCBI & NCI

dbSNP:

5441

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6839862A>G , CM000674.2:g.6839862A>G	GRCh38
NC_000012.11:g.6949026A>G , CM000674.1:g.6949026A>G	GRCh37
NC_000012.10:g.6819287A>G	NCBI36
NG_009100.1:g.4652A>G
NG_033740.1:g.16490A>G
NG_009100.2:g.4652A>G

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