Canonical Allele Identifier: CA1118643278

Gene:

Linked Data

• dbSNP Id: rs1814945373
• gnomAD v3: 8-122395703-A-G
• gnomAD v4: 8-122395703-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395703A>G , CM000670.2:g.122395703A>G	GRCh38
NC_000008.10:g.123407942A>G , CM000670.1:g.123407942A>G	GRCh37
NC_000008.9:g.123477123A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3469T>C
XR_928599.3:n.152+3469T>C