Canonical Allele Identifier: CA950572559

Gene:

Linked Data

• dbSNP Id: rs1873065379
• gnomAD v3: 12-93293061-C-A
• gnomAD v4: 12-93293061-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93293061C>A , CM000674.2:g.93293061C>A	GRCh38
NC_000012.11:g.93686837C>A , CM000674.1:g.93686837C>A	GRCh37
NC_000012.10:g.92210968C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040096.1:n.329+34966G>T