Canonical Allele Identifier: CA606294175

Gene:

Linked Data

• dbSNP Id: rs1328241646
• gnomAD v2: 12-80463197-A-C
• gnomAD v3: 12-80069417-A-C
• gnomAD v4: 12-80069417-A-C
• MyVariant Identifiers: chr12:g.80463197A>C (hg19) ; chr12:g.80069417A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80069417A>C , CM000674.2:g.80069417A>C	GRCh38
NC_000012.11:g.80463197A>C , CM000674.1:g.80463197A>C	GRCh37
NC_000012.10:g.78987328A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945140.1:n.456+8235A>C
XR_945141.1:n.1758+8235A>C