Canonical Allele Identifier: CA2566621019

Gene:

Linked Data

• dbSNP Id: rs1048082782
• gnomAD v3: 5-113714832-C-G
• gnomAD v4: 5-113714832-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113714832C>G , CM000667.2:g.113714832C>G	GRCh38
NC_000005.9:g.113050529C>G , CM000667.1:g.113050529C>G	GRCh37
NC_000005.8:g.113078428C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742840.1:n.153-18729C>G