Canonical Allele Identifier: CA2024154228

Gene:

Linked Data

• dbSNP Id: rs1591873958
• gnomAD v3: 12-28045194-C-T
• gnomAD v4: 12-28045194-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045194C>T , CM000674.2:g.28045194C>T	GRCh38
NC_000012.11:g.28198127C>T , CM000674.1:g.28198127C>T	GRCh37
NC_000012.10:g.28089394C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931460.1:n.154-6236G>A