Canonical Allele Identifier: CA562120160

Gene:

Linked Data

• dbSNP Id: rs1212484336
• gnomAD v2: 5-113050597-A-G
• gnomAD v3: 5-113714900-A-G
• gnomAD v4: 5-113714900-A-G
• MyVariant Identifiers: chr5:g.113050597A>G (hg19) ; chr5:g.113714900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113714900A>G , CM000667.2:g.113714900A>G	GRCh38
NC_000005.9:g.113050597A>G , CM000667.1:g.113050597A>G	GRCh37
NC_000005.8:g.113078496A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001742840.1:n.153-18661A>G