Canonical Allele Identifier: CA806430575

Gene:

Linked Data

• dbSNP Id: rs1290477386
• MyVariant Identifiers: chr5:g.159007819T>C (hg19) ; chr5:g.159580811T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580811T>C , CM000667.2:g.159580811T>C	GRCh38
NC_000005.9:g.159007819T>C , CM000667.1:g.159007819T>C	GRCh37
NC_000005.8:g.158940397T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941139.1:n.2075+376T>C
XR_941140.1:n.2075+376T>C
XR_941141.1:n.570+376T>C
XR_941139.2:n.2229+376T>C