Canonical Allele Identifier: CA165047079

Gene:

Linked Data

• dbSNP Id: rs564886566
• gnomAD v2: 7-112628440-T-C
• gnomAD v3: 7-112988385-T-C
• gnomAD v4: 7-112988385-T-C
• MyVariant Identifiers: chr7:g.112628440T>C (hg19) ; chr7:g.112988385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.112988385T>C , CM000669.2:g.112988385T>C	GRCh38
NC_000007.13:g.112628440T>C , CM000669.1:g.112628440T>C	GRCh37
NC_000007.12:g.112415676T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_110162.1:n.77-1721A>G