Canonical Allele Identifier: CA2147904031
Gene: ESRRB HGNC NCBI

Linked Data

dbSNP Id: rs1884620068
gnomAD v3: 14-76371340-A-T
gnomAD v4: 14-76371340-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.76371340A>T , CM000676.2:g.76371340A>T GRCh38
NC_000014.8:g.76837683A>T , CM000676.1:g.76837683A>T GRCh37
NC_000014.7:g.75907436A>T NCBI36
NG_012278.1:g.4994A>T
NG_012278.2:g.4994A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000512784.6:c.2+60424A>T ENSP00000424992.2:n.2+60424A>T
ENST00000505752.5:c.-378A>T ENSP00000423004.1:n.-378A>T
ENST00000512784.5:c.2+60424A>T ENSP00000424992.1:n.2+60424A>T
XM_011536548.1:c.-378A>T XP_011534850.1:n.-378A>T
NM_004452.4:c.-378A>T NP_004443.3:n.-378A>T
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