Canonical Allele Identifier: CA880361698
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs1388068445
gnomAD v3: Y-19503549-G-C
gnomAD v4: Y-19503549-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19503549G>C , CM000686.2:g.19503549G>C GRCh38
NC_000024.9:g.21665435G>C , CM000686.1:g.21665435G>C GRCh37
NC_000024.8:g.20124823G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.112-23255C>G