Canonical Allele Identifier: CA1132939228
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs2061782536
gnomAD v3: X-48527359-C-G
gnomAD v4: X-48527359-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527359C>G , CM000685.2:g.48527359C>G GRCh38
NC_000023.10:g.48385747C>G , CM000685.1:g.48385747C>G GRCh37
NC_000023.9:g.48270691C>G NCBI36
NG_007452.1:g.10584C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.469+74C>G MANE Select ENSP00000417052.1:n.469+74C>G
ENST00000651615.1:c.469+74C>G ENSP00000498524.1:n.469+74C>G
ENST00000276096.10:n.427+74C>G
ENST00000446158.5:c.469+74C>G ENSP00000390031.1:n.469+74C>G
ENST00000466461.1:n.382C>G
ENST00000495186.5:c.469+74C>G ENSP00000417052.1:n.469+74C>G
ENST00000498425.1:n.590+74C>G
NM_006579.2:c.469+74C>G NP_006570.1:n.469+74C>G
NM_006579.3:c.469+74C>G MANE Select NP_006570.1:n.469+74C>G
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