Canonical Allele Identifier: CA181547503
Gene:

Linked Data

dbSNP Id: rs775732054
gnomAD v3: 8-88535746-A-G
gnomAD v4: 8-88535746-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88535746A>G , CM000670.2:g.88535746A>G GRCh38
NC_000008.10:g.89547975A>G , CM000670.1:g.89547975A>G GRCh37
NC_000008.9:g.89617091A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745651.2:n.1673+10771T>C
XR_001745653.2:n.286-6934A>G
XR_928383.3:n.1475+10771T>C