Canonical Allele Identifier: CA2598597874

Gene:

Linked Data

• dbSNP Id: rs2141115217
• gnomAD v3: 15-94775328-C-A
• gnomAD v4: 15-94775328-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.94775328C>A , CM000677.2:g.94775328C>A	GRCh38
NC_000015.9:g.95318557C>A , CM000677.1:g.95318557C>A	GRCh37
NC_000015.8:g.93119561C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_932644.1:n.369-9311G>T
XR_932644.2:n.369-9311G>T