Canonical Allele Identifier: CA241972493

Gene:

Linked Data

• dbSNP Id: rs1035568795
• gnomAD v2: 12-93686970-T-C
• gnomAD v3: 12-93293194-T-C
• gnomAD v4: 12-93293194-T-C
• MyVariant Identifiers: chr12:g.93686970T>C (hg19) ; chr12:g.93293194T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93293194T>C , CM000674.2:g.93293194T>C	GRCh38
NC_000012.11:g.93686970T>C , CM000674.1:g.93686970T>C	GRCh37
NC_000012.10:g.92211101T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040096.1:n.329+34833A>G