Canonical Allele Identifier: CA915234747

Gene:

Linked Data

• dbSNP Id: rs1561584597
• gnomAD v2: 5-162083578-T-C
• gnomAD v3: 5-162656572-T-C
• gnomAD v4: 5-162656572-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162656572T>C , CM000667.2:g.162656572T>C	GRCh38
NC_000005.9:g.162083578T>C , CM000667.1:g.162083578T>C	GRCh37
NC_000005.8:g.162016156T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742958.1:n.418+3530A>G