Canonical Allele Identifier: CA1111564345

Gene:

Linked Data

• dbSNP Id: rs2071238750
• gnomAD v3: 8-20130004-G-A
• gnomAD v4: 8-20130004-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20130004G>A , CM000670.2:g.20130004G>A	GRCh38
NC_000008.10:g.19987515G>A , CM000670.1:g.19987515G>A	GRCh37
NC_000008.9:g.20031795G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_949563.1:n.3408+85G>A
XR_949563.2:n.3400+85G>A