Canonical Allele Identifier: CA337395784
Gene: BCORP1 HGNC NCBI

Linked Data

dbSNP Id: rs762748887
gnomAD v3: Y-19466381-C-G
gnomAD v4: Y-19466381-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19466381C>G , CM000686.2:g.19466381C>G GRCh38
NC_000024.9:g.21628267C>G , CM000686.1:g.21628267C>G GRCh37
NC_000024.8:g.20087655C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000650676.1:n.1660+75G>C
ENST00000400605.5:n.1654+75G>C
ENST00000441139.5:n.1671+75G>C
ENST00000513194.1:n.4579+63G>C
NR_002923.2:n.1671+75G>C
NR_033732.1:n.1671+75G>C