Canonical Allele Identifier: CA691969165

Gene:

Linked Data

• dbSNP Id: rs1460433722
• gnomAD v3: 12-76004964-A-G
• gnomAD v4: 12-76004964-A-G
• MyVariant Identifiers: chr12:g.76398744A>G (hg19) ; chr12:g.76004964A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76004964A>G , CM000674.2:g.76004964A>G	GRCh38
NC_000012.11:g.76398744A>G , CM000674.1:g.76398744A>G	GRCh37
NC_000012.10:g.74685011A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_945110.1:n.311+1225T>C
XR_001749218.2:n.402+1225T>C
XR_945110.3:n.402+1225T>C