Canonical Allele Identifier: CA129965475

Gene:

Linked Data

• dbSNP Id: rs929506818
• gnomAD v2: 5-159007983-G-A
• gnomAD v3: 5-159580975-G-A
• gnomAD v4: 5-159580975-G-A
• COSMIC: COSN7904549
• MyVariant Identifiers: chr5:g.159007983G>A (hg19) ; chr5:g.159580975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580975G>A , CM000667.2:g.159580975G>A	GRCh38
NC_000005.9:g.159007983G>A , CM000667.1:g.159007983G>A	GRCh37
NC_000005.8:g.158940561G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_941139.1:n.2075+540G>A
XR_941140.1:n.2075+540G>A
XR_941141.1:n.570+540G>A
XR_941139.2:n.2229+540G>A