Allele Registry

Canonical Allele Identifier: CA148525043

Gene:

Linked Data - Expert Curation

COSMIC:

COSN9968091 (not active)

COSN14763995 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.135114363T>C

GRCh37 chr6:g.135435501T>C

Linked Data - Sequence & Population

gnomAD v2:

6:135435501 T / C

gnomAD v3:

6:135114363 T / C

gnomAD v4:

chr6-135114363-T-C

Joint Max Group AF 0.25832159 (EAS)

Genomes Max Group AF 0.25832159 (EAS)

Linked Data - NCBI & NCI

dbSNP:

9483788

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135114363T>C , CM000668.2:g.135114363T>C	GRCh38
NC_000006.11:g.135435501T>C , CM000668.1:g.135435501T>C	GRCh37
NC_000006.10:g.135477194T>C	NCBI36

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