Canonical Allele Identifier: CA692339876

Gene:

Linked Data

• dbSNP Id: rs1174943873
• gnomAD v3: 12-80069231-T-G
• gnomAD v4: 12-80069231-T-G
• MyVariant Identifiers: chr12:g.80463011T>G (hg19) ; chr12:g.80069231T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80069231T>G , CM000674.2:g.80069231T>G	GRCh38
NC_000012.11:g.80463011T>G , CM000674.1:g.80463011T>G	GRCh37
NC_000012.10:g.78987142T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_945140.1:n.456+8049T>G
XR_945141.1:n.1758+8049T>G