Canonical Allele Identifier: CA1118643353

Gene:

Linked Data

• dbSNP Id: rs1814948787
• gnomAD v3: 8-122395932-G-A
• gnomAD v4: 8-122395932-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122395932G>A , CM000670.2:g.122395932G>A	GRCh38
NC_000008.10:g.123408171G>A , CM000670.1:g.123408171G>A	GRCh37
NC_000008.9:g.123477352G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928599.1:n.152+3240C>T
XR_928599.3:n.152+3240C>T