Canonical Allele Identifier: CA972459621

Gene:

Linked Data

• dbSNP Id: rs1426885508
• gnomAD v3: 15-87419385-T-C
• gnomAD v4: 15-87419385-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.87419385T>C , CM000677.2:g.87419385T>C	GRCh38
NC_000015.9:g.87962616T>C , CM000677.1:g.87962616T>C	GRCh37
NC_000015.8:g.85763620T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_932584.1:n.340-114A>G
XR_932585.1:n.340-114A>G
XR_001751647.1:n.617-114A>G
XR_932585.2:n.627-114A>G