Canonical Allele Identifier: CA162129252

Gene:

Linked Data

• dbSNP Id: rs1048428936
• gnomAD v2: 7-87543101-A-G
• gnomAD v3: 7-87913786-A-G
• gnomAD v4: 7-87913786-A-G
• MyVariant Identifiers: chr7:g.87543101A>G (hg19) ; chr7:g.87913786A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87913786A>G , CM000669.2:g.87913786A>G	GRCh38
NC_000007.13:g.87543101A>G , CM000669.1:g.87543101A>G	GRCh37
NC_000007.12:g.87381037A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927723.1:n.148+115T>C
XR_927724.1:n.192+115T>C