Canonical Allele Identifier: CA923741879
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs2045086138
gnomAD v3: Y-19512561-C-G
gnomAD v4: Y-19512561-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19512561C>G , CM000686.2:g.19512561C>G GRCh38
NC_000024.9:g.21674447C>G , CM000686.1:g.21674447C>G GRCh37
NC_000024.8:g.20133835C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650676.1:n.112-32267G>C