Canonical Allele Identifier: CA234906712

Gene:

Linked Data

• dbSNP Id: rs570973607
• gnomAD v3: 12-28045207-G-A
• gnomAD v4: 12-28045207-G-A
• MyVariant Identifiers: chr12:g.28198140G>A (hg19) ; chr12:g.28045207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045207G>A , CM000674.2:g.28045207G>A	GRCh38
NC_000012.11:g.28198140G>A , CM000674.1:g.28198140G>A	GRCh37
NC_000012.10:g.28089407G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931460.1:n.154-6249C>T