Canonical Allele Identifier: CA1083000024

Gene:

Linked Data

• dbSNP Id: rs1760954628
• gnomAD v3: 5-152354575-A-G
• gnomAD v4: 5-152354575-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354575A>G , CM000667.2:g.152354575A>G	GRCh38
NC_000005.9:g.151734136A>G , CM000667.1:g.151734136A>G	GRCh37
NC_000005.8:g.151714329A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_944433.1:n.196+16712A>G
XR_944433.2:n.197+16712A>G