Canonical Allele Identifier: CA16341893
Gene:

Linked Data

dbSNP Id: rs10504861
gnomAD v2: 8-89547932-C-T
gnomAD v3: 8-88535703-C-T
gnomAD v4: 8-88535703-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88535703C>T , CM000670.2:g.88535703C>T GRCh38
NC_000008.10:g.89547932C>T , CM000670.1:g.89547932C>T GRCh37
NC_000008.9:g.89617048C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745651.2:n.1673+10814G>A
XR_001745653.2:n.286-6977C>T
XR_928383.3:n.1475+10814G>A