Canonical Allele Identifier: CA1104155238

Gene:

Linked Data

• dbSNP Id: rs1840054782
• gnomAD v3: 7-87913763-G-A
• gnomAD v4: 7-87913763-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87913763G>A , CM000669.2:g.87913763G>A	GRCh38
NC_000007.13:g.87543078G>A , CM000669.1:g.87543078G>A	GRCh37
NC_000007.12:g.87381014G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927723.1:n.148+138C>T
XR_927724.1:n.192+138C>T