Allele Registry

Canonical Allele Identifier: CA11992450

Gene:

Linked Data - Expert Curation

COSMIC:

COSN14868901 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.180749005A>G

GRCh37 chr5:g.180176005A>G

Linked Data - Sequence & Population

gnomAD v2:

5:180176005 A / G

gnomAD v3:

5:180749005 A / G

gnomAD v4:

chr5-180749005-A-G

Joint Max Group AF 0.55187883 (NFE)

Genomes Max Group AF 0.55187883 (NFE)

Linked Data - NCBI & NCI

dbSNP:

12186500

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.180749005A>G , CM000667.2:g.180749005A>G	GRCh38
NC_000005.9:g.180176005A>G , CM000667.1:g.180176005A>G	GRCh37
NC_000005.8:g.180108611A>G	NCBI36

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