Canonical Allele Identifier: CA687013183

Gene:

Linked Data

• dbSNP Id: rs1453552965
• gnomAD v3: 12-28045170-C-T
• gnomAD v4: 12-28045170-C-T
• MyVariant Identifiers: chr12:g.28198103C>T (hg19) ; chr12:g.28045170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045170C>T , CM000674.2:g.28045170C>T	GRCh38
NC_000012.11:g.28198103C>T , CM000674.1:g.28198103C>T	GRCh37
NC_000012.10:g.28089370C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931460.1:n.154-6212G>A