Allele Registry

Canonical Allele Identifier: CA12163330

Gene:

Linked Data - Expert Curation

COSMIC:

COSN16214220 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.113660957T>C

GRCh37 chr5:g.112996654T>C

Linked Data - Sequence & Population

gnomAD v2:

5:112996654 T / C

gnomAD v3:

5:113660957 T / C

gnomAD v4:

chr5-113660957-T-C

Joint Max Group AF 0.21281963 (AFR)

Genomes Max Group AF 0.21281963 (AFR)

Linked Data - NCBI & NCI

dbSNP:

17135859

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113660957T>C , CM000667.2:g.113660957T>C	GRCh38
NC_000005.9:g.112996654T>C , CM000667.1:g.112996654T>C	GRCh37
NC_000005.8:g.113024553T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742841.1:n.59+27593T>C

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