Canonical Allele Identifier: CA131177559

Gene:

Linked Data

• dbSNP Id: rs1004659386
• gnomAD v2: 5-162083556-A-G
• gnomAD v3: 5-162656550-A-G
• gnomAD v4: 5-162656550-A-G
• MyVariant Identifiers: chr5:g.162083556A>G (hg19) ; chr5:g.162656550A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162656550A>G , CM000667.2:g.162656550A>G	GRCh38
NC_000005.9:g.162083556A>G , CM000667.1:g.162083556A>G	GRCh37
NC_000005.8:g.162016134A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742958.1:n.418+3552T>C