Canonical Allele Identifier: CA915700052

Gene:

Linked Data

• dbSNP Id: rs1814933319
• gnomAD v2: 8-128011514-A-G
• gnomAD v3: 8-126999269-A-G
• gnomAD v4: 8-126999269-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999269A>G , CM000670.2:g.126999269A>G	GRCh38
NC_000008.10:g.128011514A>G , CM000670.1:g.128011514A>G	GRCh37
NC_000008.9:g.128080696A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7286A>G