Canonical Allele Identifier: CA928817828

Gene:

Linked Data

• dbSNP Id: rs191090456
• gnomAD v3: 10-57812652-C-A
• gnomAD v4: 10-57812652-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.57812652C>A , CM000672.2:g.57812652C>A	GRCh38
NC_000010.10:g.59572412C>A , CM000672.1:g.59572412C>A	GRCh37
NC_000010.9:g.59242418C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945979.1:n.68+34640G>T
XR_001747454.1:n.85+34640G>T