Canonical Allele Identifier: CA596768595
Gene: BET1L HGNC NCBI

Linked Data

dbSNP Id: rs1348389996
gnomAD v2: 11-202895-A-C
gnomAD v3: 11-202895-A-C
gnomAD v4: 11-202895-A-C
MyVariant Identifiers: chr11:g.202895A>C (hg19) chr11:g.202895A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.202895A>C , CM000673.2:g.202895A>C GRCh38
NC_000011.9:g.202895A>C , CM000673.1:g.202895A>C GRCh37
NC_000011.8:g.192895A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000410108.5:c.168+2716T>G ENSP00000386558.1:n.168+2716T>G
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