Allele Registry

Canonical Allele Identifier: CA130299719

Gene:

Linked Data - Expert Curation

COSMIC:

COSN14782513 (not active)

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr5:g.153125369A>G

GRCh37 chr5:g.152504929A>G

Linked Data - Sequence & Population

gnomAD v2:

5:152504929 A / G

gnomAD v3:

5:153125369 A / G

gnomAD v4:

chr5-153125369-A-G

Joint Max Group AF 0.9336447 (NFE)

Genomes Max Group AF 0.9336447 (NFE)

Linked Data - NCBI & NCI

dbSNP:

1438949

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.153125369A>G , CM000667.2:g.153125369A>G	GRCh38
NC_000005.9:g.152504929A>G , CM000667.1:g.152504929A>G	GRCh37
NC_000005.8:g.152485122A>G	NCBI36

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