Canonical Allele Identifier: CA806430629

Gene:

Linked Data

• dbSNP Id: rs1367539675
• gnomAD v3: 5-159580981-C-T
• gnomAD v4: 5-159580981-C-T
• MyVariant Identifiers: chr5:g.159007988C>T (hg19) ; chr5:g.159580981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580981C>T , CM000667.2:g.159580981C>T	GRCh38
NC_000005.9:g.159007988C>T , CM000667.1:g.159007988C>T	GRCh37
NC_000005.8:g.158940566C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_941139.1:n.2075+546C>T
XR_941140.1:n.2075+546C>T
XR_941141.1:n.570+546C>T
XR_941139.2:n.2229+546C>T