Canonical Allele Identifier: CA241972495

Gene:

Linked Data

• dbSNP Id: rs780689003
• gnomAD v2: 12-93686995-C-G
• gnomAD v3: 12-93293219-C-G
• gnomAD v4: 12-93293219-C-G
• MyVariant Identifiers: chr12:g.93686995C>G (hg19) ; chr12:g.93293219C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93293219C>G , CM000674.2:g.93293219C>G	GRCh38
NC_000012.11:g.93686995C>G , CM000674.1:g.93686995C>G	GRCh37
NC_000012.10:g.92211126C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040096.1:n.329+34808G>C