Canonical Allele Identifier: CA216874429
Gene: BET1L HGNC NCBI

Linked Data

dbSNP Id: rs865838514
gnomAD v2: 11-202917-C-T
gnomAD v3: 11-202917-C-T
gnomAD v4: 11-202917-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.202917C>T , CM000673.2:g.202917C>T GRCh38
NC_000011.9:g.202917C>T , CM000673.1:g.202917C>T GRCh37
NC_000011.8:g.192917C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000410108.5:c.168+2694G>A ENSP00000386558.1:n.168+2694G>A