Canonical Allele Identifier: CA162129245

Gene:

Linked Data

• dbSNP Id: rs536354831
• gnomAD v2: 7-87543073-C-A
• gnomAD v3: 7-87913758-C-A
• gnomAD v4: 7-87913758-C-A
• MyVariant Identifiers: chr7:g.87543073C>A (hg19) ; chr7:g.87913758C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87913758C>A , CM000669.2:g.87913758C>A	GRCh38
NC_000007.13:g.87543073C>A , CM000669.1:g.87543073C>A	GRCh37
NC_000007.12:g.87381009C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927723.1:n.148+143G>T
XR_927724.1:n.192+143G>T