Canonical Allele Identifier: CA972459616

Gene:

Linked Data

• dbSNP Id: rs1895000439
• gnomAD v3: 15-87419293-A-C
• gnomAD v4: 15-87419293-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.87419293A>C , CM000677.2:g.87419293A>C	GRCh38
NC_000015.9:g.87962524A>C , CM000677.1:g.87962524A>C	GRCh37
NC_000015.8:g.85763528A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_932584.1:n.340-22T>G
XR_932585.1:n.340-22T>G
XR_001751647.1:n.617-22T>G
XR_932585.2:n.627-22T>G