Canonical Allele Identifier: CA950572690

Gene:

Linked Data

• dbSNP Id: rs1873069631
• gnomAD v3: 12-93293305-C-A
• gnomAD v4: 12-93293305-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93293305C>A , CM000674.2:g.93293305C>A	GRCh38
NC_000012.11:g.93687081C>A , CM000674.1:g.93687081C>A	GRCh37
NC_000012.10:g.92211212C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040096.1:n.329+34722G>T