Canonical Allele Identifier: CA806430579

Gene:

Linked Data

• dbSNP Id: rs1486163087
• gnomAD v3: 5-159580822-G-T
• gnomAD v4: 5-159580822-G-T
• MyVariant Identifiers: chr5:g.159007830G>T (hg19) ; chr5:g.159580822G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580822G>T , CM000667.2:g.159580822G>T	GRCh38
NC_000005.9:g.159007830G>T , CM000667.1:g.159007830G>T	GRCh37
NC_000005.8:g.158940408G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941139.1:n.2075+387G>T
XR_941140.1:n.2075+387G>T
XR_941141.1:n.570+387G>T
XR_941139.2:n.2229+387G>T