Canonical Allele Identifier: CA2687741450

Gene:

Linked Data

• gnomAD v4: 8-81478392-T-G

Genomic Alleles

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

Transcript Alleles

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