Canonical Allele Identifier: CA2112050590

Gene:

Linked Data

• dbSNP Id: rs1878600067
• gnomAD v3: 13-94853046-A-G
• gnomAD v4: 13-94853046-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94853046A>G , CM000675.2:g.94853046A>G	GRCh38
NC_000013.10:g.95505300A>G , CM000675.1:g.95505300A>G	GRCh37
NC_000013.9:g.94303301A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_110754.1:n.257-52418A>G