Canonical Allele Identifier: CA615178063
Gene: ESRRB HGNC NCBI

Linked Data

dbSNP Id: rs1427374985
gnomAD v2: 14-76837742-A-C
gnomAD v3: 14-76371399-A-C
gnomAD v4: 14-76371399-A-C
MyVariant Identifiers: chr14:g.76837742A>C (hg19) chr14:g.76371399A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.76371399A>C , CM000676.2:g.76371399A>C GRCh38
NC_000014.8:g.76837742A>C , CM000676.1:g.76837742A>C GRCh37
NC_000014.7:g.75907495A>C NCBI36
NG_012278.1:g.5053A>C
NG_012278.2:g.5053A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380887.7:c.-319A>C ENSP00000370270.2:n.-319A>C
ENST00000505752.6:c.-319A>C ENSP00000423004.1:n.-319A>C
ENST00000512784.6:c.2+60483A>C ENSP00000424992.2:n.2+60483A>C
ENST00000505752.5:c.-319A>C ENSP00000423004.1:n.-319A>C
ENST00000512784.5:c.2+60483A>C ENSP00000424992.1:n.2+60483A>C
NM_004452.3:c.-319A>C NP_004443.3:n.-319A>C
XM_011536548.1:c.-319A>C XP_011534850.1:n.-319A>C
NM_004452.4:c.-319A>C NP_004443.3:n.-319A>C
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