Canonical Allele Identifier: CA129965395

Gene:

Linked Data

• dbSNP Id: rs1031436395
• gnomAD v2: 5-159007790-A-G
• gnomAD v3: 5-159580782-A-G
• gnomAD v4: 5-159580782-A-G
• MyVariant Identifiers: chr5:g.159007790A>G (hg19) ; chr5:g.159580782A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159580782A>G , CM000667.2:g.159580782A>G	GRCh38
NC_000005.9:g.159007790A>G , CM000667.1:g.159007790A>G	GRCh37
NC_000005.8:g.158940368A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941139.1:n.2075+347A>G
XR_941140.1:n.2075+347A>G
XR_941141.1:n.570+347A>G
XR_941139.2:n.2229+347A>G