Canonical Allele Identifier: CA337397656
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs11096433
gnomAD v3: Y-19512182-C-T
gnomAD v4: Y-19512182-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19512182C>T , CM000686.2:g.19512182C>T GRCh38
NC_000024.9:g.21674068C>T , CM000686.1:g.21674068C>T GRCh37
NC_000024.8:g.20133456C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.112-31888G>A