Canonical Allele Identifier: CA10641049

Gene: ESRRB

Linked Data

• ClinVar Variation Id: 314484
• ClinVar RCV Id: RCV000322479
• dbSNP Id: rs886050805
• gnomAD v3: 14-76462564-C-T
• gnomAD v4: 14-76462564-C-T
• MyVariant Identifiers: chr14:g.76928907C>T (hg19) ; chr14:g.76462564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76462564C>T , CM000676.2:g.76462564C>T	GRCh38
NC_000014.8:g.76928907C>T , CM000676.1:g.76928907C>T	GRCh37
NC_000014.7:g.75998660C>T	NCBI36
NG_012278.1:g.96218C>T
NG_012278.2:g.96218C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380887.7:c.417C>T	ENSP00000370270.2:p.Cys139=
ENST00000505752.6:c.417C>T	ENSP00000423004.1:p.Cys139=
ENST00000512784.6:c.432C>T	ENSP00000424992.2:p.Cys144=
ENST00000644823.1:c.480C>T MANE Select	ENSP00000493776.1:p.Cys160=
ENST00000380887.6:c.417C>T	ENSP00000370270.2:p.Cys139=
ENST00000505752.5:c.417C>T	ENSP00000423004.1:p.Cys139=
ENST00000507951.5:n.525C>T
ENST00000509242.5:c.417C>T	ENSP00000422488.1:p.Cys139=
ENST00000509323.1:n.129C>T
ENST00000512784.5:c.432C>T	ENSP00000424992.1:p.Cys144=
ENST00000556177.1:c.417C>T	ENSP00000451658.1:p.Cys139=
NM_004452.3:c.417C>T	NP_004443.3:p.Cys139=
XM_005267404.2:c.480C>T	XP_005267461.1:p.Cys160=
XM_011536547.1:c.480C>T	XP_011534849.1:p.Cys160=
XM_011536548.1:c.417C>T	XP_011534850.1:p.Cys139=
XM_011536549.1:c.417C>T	XP_011534851.1:p.Cys139=
XM_011536550.1:c.417C>T	XP_011534852.1:p.Cys139=
XM_011536551.1:c.417C>T	XP_011534853.1:p.Cys139=
XM_011536552.1:c.417C>T	XP_011534854.1:p.Cys139=
XM_011536553.1:c.480C>T	XP_011534855.1:p.Cys160=
XM_011536554.1:c.480C>T	XP_011534856.1:p.Cys160=
XR_943401.1:n.727C>T
XM_011536547.2:c.480C>T	XP_011534849.1:p.Cys160=
XM_011536550.2:c.417C>T	XP_011534852.1:p.Cys139=
XM_011536553.2:c.480C>T	XP_011534855.1:p.Cys160=
XM_011536554.2:c.480C>T	XP_011534856.1:p.Cys160=
XM_017021085.1:c.417C>T	XP_016876574.1:p.Cys139=
XM_024449508.1:c.480C>T	XP_024305276.1:p.Cys160=
XM_024449509.1:c.417C>T	XP_024305277.1:p.Cys139=
XR_001750189.1:n.950C>T
XR_943401.2:n.950C>T
NM_001379180.1:c.480C>T MANE Select	NP_001366109.1:p.Cys160=
NM_004452.4:c.417C>T	NP_004443.3:p.Cys139=