Canonical Allele Identifier: CA337397970
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs113849309
gnomAD v3: Y-19521848-T-C
gnomAD v4: Y-19521848-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19521848T>C , CM000686.2:g.19521848T>C GRCh38
NC_000024.9:g.21683734T>C , CM000686.1:g.21683734T>C GRCh37
NC_000024.8:g.20143122T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.112-41554A>G