Canonical Allele Identifier: CA131177561

Gene:

Linked Data

• dbSNP Id: rs201950802
• gnomAD v2: 5-162083572-T-C
• gnomAD v3: 5-162656566-T-C
• gnomAD v4: 5-162656566-T-C
• MyVariant Identifiers: chr5:g.162083572T>C (hg19) ; chr5:g.162656566T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162656566T>C , CM000667.2:g.162656566T>C	GRCh38
NC_000005.9:g.162083572T>C , CM000667.1:g.162083572T>C	GRCh37
NC_000005.8:g.162016150T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742958.1:n.418+3536A>G