Canonical Allele Identifier: CA596768570
Gene: BET1L HGNC NCBI

Linked Data

dbSNP Id: rs1445354705
gnomAD v2: 11-202761-G-T
gnomAD v3: 11-202761-G-T
gnomAD v4: 11-202761-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.202761G>T , CM000673.2:g.202761G>T GRCh38
NC_000011.9:g.202761G>T , CM000673.1:g.202761G>T GRCh37
NC_000011.8:g.192761G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000410108.5:c.168+2850C>A ENSP00000386558.1:n.168+2850C>A