Canonical Allele Identifier: CA2055289506

Gene:

Linked Data

• dbSNP Id: rs1873067114
• gnomAD v3: 12-93293151-G-A
• gnomAD v4: 12-93293151-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93293151G>A , CM000674.2:g.93293151G>A	GRCh38
NC_000012.11:g.93686927G>A , CM000674.1:g.93686927G>A	GRCh37
NC_000012.10:g.92211058G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040096.1:n.329+34876C>T