Canonical Allele Identifier: CA806430564

Gene:

Linked Data

• dbSNP Id: rs1182903690
• gnomAD v3: 5-159580771-C-T
• gnomAD v4: 5-159580771-C-T
• MyVariant Identifiers: chr5:g.159007779C>T (hg19) ; chr5:g.159580771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580771C>T , CM000667.2:g.159580771C>T	GRCh38
NC_000005.9:g.159007779C>T , CM000667.1:g.159007779C>T	GRCh37
NC_000005.8:g.158940357C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941139.1:n.2075+336C>T
XR_941140.1:n.2075+336C>T
XR_941141.1:n.570+336C>T
XR_941139.2:n.2229+336C>T