Canonical Allele Identifier: CA10635366

Gene: ESRRB

Linked Data

• ClinVar Variation Id: 314479
• ClinVar RCV Id: RCV000274372
• dbSNP Id: rs541720695
• gnomAD v3: 14-76371527-T-C
• gnomAD v4: 14-76371527-T-C
• MyVariant Identifiers: chr14:g.76837870T>C (hg19) ; chr14:g.76371527T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76371527T>C , CM000676.2:g.76371527T>C	GRCh38
NC_000014.8:g.76837870T>C , CM000676.1:g.76837870T>C	GRCh37
NC_000014.7:g.75907623T>C	NCBI36
NG_012278.1:g.5181T>C
NG_012278.2:g.5181T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380887.7:c.-191T>C	ENSP00000370270.2:n.-191T>C
ENST00000505752.6:c.-191T>C	ENSP00000423004.1:n.-191T>C
ENST00000512784.6:c.2+60611T>C	ENSP00000424992.2:n.2+60611T>C
ENST00000505752.5:c.-191T>C	ENSP00000423004.1:n.-191T>C
ENST00000512784.5:c.2+60611T>C	ENSP00000424992.1:n.2+60611T>C
NM_004452.3:c.-191T>C	NP_004443.3:n.-191T>C
XM_011536548.1:c.-191T>C	XP_011534850.1:n.-191T>C
NM_004452.4:c.-191T>C	NP_004443.3:n.-191T>C