Canonical Allele Identifier: CA959071010

Gene:

Linked Data

• dbSNP Id: rs1878602363
• gnomAD v3: 13-94853076-A-C
• gnomAD v4: 13-94853076-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94853076A>C , CM000675.2:g.94853076A>C	GRCh38
NC_000013.10:g.95505330A>C , CM000675.1:g.95505330A>C	GRCh37
NC_000013.9:g.94303331A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_110754.1:n.257-52388A>C