Allele Registry

Canonical Allele Identifier: CA132477493

Gene:

Linked Data - Expert Curation

COSMIC:

COSN20385391 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.171754233T>G

GRCh37 chr5:g.171181237T>G

Linked Data - Sequence & Population

gnomAD v2:

5:171181237 T / G

gnomAD v3:

5:171754233 T / G

gnomAD v4:

chr5-171754233-T-G

Joint Max Group AF 0.86886396 (AFR)

Genomes Max Group AF 0.86886396 (AFR)

Linked Data - NCBI & NCI

dbSNP:

153750

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171754233T>G , CM000667.2:g.171754233T>G	GRCh38
NC_000005.9:g.171181237T>G , CM000667.1:g.171181237T>G	GRCh37
NC_000005.8:g.171113842T>G	NCBI36

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