Canonical Allele Identifier: CA131177554

Gene:

Linked Data

• dbSNP Id: rs1053168837
• gnomAD v2: 5-162083532-G-T
• gnomAD v3: 5-162656526-G-T
• gnomAD v4: 5-162656526-G-T
• MyVariant Identifiers: chr5:g.162083532G>T (hg19) ; chr5:g.162656526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162656526G>T , CM000667.2:g.162656526G>T	GRCh38
NC_000005.9:g.162083532G>T , CM000667.1:g.162083532G>T	GRCh37
NC_000005.8:g.162016110G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742958.1:n.418+3576C>A