Canonical Allele Identifier: CA607406234

Gene:

Linked Data

• dbSNP Id: rs1404800201
• gnomAD v2: 12-102895109-A-C
• gnomAD v3: 12-102501331-A-C
• gnomAD v4: 12-102501331-A-C
• MyVariant Identifiers: chr12:g.102895109A>C (hg19) ; chr12:g.102501331A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501331A>C , CM000674.2:g.102501331A>C	GRCh38
NC_000012.11:g.102895109A>C , CM000674.1:g.102895109A>C	GRCh37
NC_000012.10:g.101419239A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001749289.1:n.1952+17443A>C