Canonical Allele Identifier: CA10646248
Gene: ESRRB HGNC NCBI

Linked Data

ClinVar Variation Id: 314474
ClinVar RCV Id: RCV000308197
dbSNP Id: rs79948698
gnomAD v2: 14-76837737-G-A
gnomAD v3: 14-76371394-G-A
gnomAD v4: 14-76371394-G-A
MyVariant Identifiers: chr14:g.76837737G>A (hg19) chr14:g.76371394G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.76371394G>A , CM000676.2:g.76371394G>A GRCh38
NC_000014.8:g.76837737G>A , CM000676.1:g.76837737G>A GRCh37
NC_000014.7:g.75907490G>A NCBI36
NG_012278.1:g.5048G>A
NG_012278.2:g.5048G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380887.7:c.-324G>A ENSP00000370270.2:n.-324G>A
ENST00000505752.6:c.-324G>A ENSP00000423004.1:n.-324G>A
ENST00000512784.6:c.2+60478G>A ENSP00000424992.2:n.2+60478G>A
ENST00000505752.5:c.-324G>A ENSP00000423004.1:n.-324G>A
ENST00000512784.5:c.2+60478G>A ENSP00000424992.1:n.2+60478G>A
NM_004452.3:c.-324G>A NP_004443.3:n.-324G>A
XM_011536548.1:c.-324G>A XP_011534850.1:n.-324G>A
NM_004452.4:c.-324G>A NP_004443.3:n.-324G>A
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