Canonical Allele Identifier: CA337397674
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs112102527
gnomAD v3: Y-19512492-T-C
gnomAD v4: Y-19512492-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19512492T>C , CM000686.2:g.19512492T>C GRCh38
NC_000024.9:g.21674378T>C , CM000686.1:g.21674378T>C GRCh37
NC_000024.8:g.20133766T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.112-32198A>G