Allele Registry

Canonical Allele Identifier: CA13608575

Gene:

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.130150147C>T

GRCh37 chr12:g.130634692C>T

Linked Data - Sequence & Population

gnomAD v2:

12:130634692 C / T

gnomAD v3:

12:130150147 C / T

gnomAD v4:

chr12-130150147-C-T

Joint Max Group AF 0.89324837 (EAS)

Genomes Max Group AF 0.89324837 (EAS)

Exomes Max Group AF 0.48476267 (NFE)

Linked Data - NCBI & NCI

dbSNP:

11615979

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.130150147C>T , CM000674.2:g.130150147C>T	GRCh38
NC_000012.11:g.130634692C>T , CM000674.1:g.130634692C>T	GRCh37
NC_000012.10:g.129200645C>T	NCBI36

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