Canonical Allele Identifier: CA2687741449

Gene:

Linked Data

• dbSNP Id: rs2129789246
• gnomAD v4: 8-81478392-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478392T>C , CM000670.2:g.81478392T>C	GRCh38
NC_000008.10:g.82390627T>C , CM000670.1:g.82390627T>C	GRCh37
NC_000008.9:g.82553182T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16418T>C