Canonical Allele Identifier: CA241972481

Gene:

Linked Data

• dbSNP Id: rs943275746
• gnomAD v3: 12-93293059-G-C
• gnomAD v4: 12-93293059-G-C
• MyVariant Identifiers: chr12:g.93686835G>C (hg19) ; chr12:g.93293059G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93293059G>C , CM000674.2:g.93293059G>C	GRCh38
NC_000012.11:g.93686835G>C , CM000674.1:g.93686835G>C	GRCh37
NC_000012.10:g.92210966G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040096.1:n.329+34968C>G