Canonical Allele Identifier: CA606951323

Gene:

Linked Data

• dbSNP Id: rs931091780
• gnomAD v2: 12-93687126-G-A
• MyVariant Identifiers: chr12:g.93687126G>A (hg19) ; chr12:g.93293350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93293350G>A , CM000674.2:g.93293350G>A	GRCh38
NC_000012.11:g.93687126G>A , CM000674.1:g.93687126G>A	GRCh37
NC_000012.10:g.92211257G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040096.1:n.329+34677C>T