Canonical Allele Identifier: CA240569179

Gene:

Linked Data

• dbSNP Id: rs574889936
• gnomAD v3: 12-80069358-A-G
• gnomAD v4: 12-80069358-A-G
• MyVariant Identifiers: chr12:g.80463138A>G (hg19) ; chr12:g.80069358A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80069358A>G , CM000674.2:g.80069358A>G	GRCh38
NC_000012.11:g.80463138A>G , CM000674.1:g.80463138A>G	GRCh37
NC_000012.10:g.78987269A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_945140.1:n.456+8176A>G
XR_945141.1:n.1758+8176A>G