Canonical Allele Identifier: CA2059285011

Gene:

Linked Data

• dbSNP Id: rs1881754204
• gnomAD v3: 12-102501379-C-T
• gnomAD v4: 12-102501379-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501379C>T , CM000674.2:g.102501379C>T	GRCh38
NC_000012.11:g.102895157C>T , CM000674.1:g.102895157C>T	GRCh37
NC_000012.10:g.101419287C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001749289.1:n.1952+17491C>T