Canonical Allele Identifier: CA1083000034

Gene:

Linked Data

• dbSNP Id: rs1760955417
• gnomAD v3: 5-152354625-G-A
• gnomAD v4: 5-152354625-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.152354625G>A , CM000667.2:g.152354625G>A	GRCh38
NC_000005.9:g.151734186G>A , CM000667.1:g.151734186G>A	GRCh37
NC_000005.8:g.151714379G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_944433.1:n.196+16762G>A
XR_944433.2:n.197+16762G>A