Canonical Allele Identifier: CA127232122

Gene:

Linked Data

• dbSNP Id: rs58519578
• gnomAD v2: 5-125338624-C-T
• gnomAD v3: 5-126002931-C-T
• gnomAD v4: 5-126002931-C-T
• MyVariant Identifiers: chr5:g.125338624C>T (hg19) ; chr5:g.126002931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126002931C>T , CM000667.2:g.126002931C>T	GRCh38
NC_000005.9:g.125338624C>T , CM000667.1:g.125338624C>T	GRCh37
NC_000005.8:g.125366523C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948737.1:n.565+3409G>A
XR_948738.1:n.497+5609G>A