{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA129252313", "communityStandardTitle": [ "NM_000176.3(NR3C1):c.2034C>A (p.Asp678Glu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.142662280G>T?assembly=hg19", "id": "chr5:g.142662280G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.143282715G>T?assembly=hg38", "id": "chr5:g.143282715G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/258751", "rs": 258751 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 143282715, "referenceAllele": "G", "start": 143282714 } ], "hgvs": [ "NC_000005.10:g.143282715G>T", "CM000667.2:g.143282715G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 142662280, "referenceAllele": "G", "start": 142662279 } ], "hgvs": [ "NC_000005.9:g.142662280G>T", "CM000667.1:g.142662280G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 142642473, "referenceAllele": "G", "start": 142642472 } ], "hgvs": [ "NC_000005.8:g.142642473G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 157798, "referenceAllele": "C", "start": 157797 } ], "hgvs": [ "NG_009062.1:g.157798C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001404" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000394464.7:c.2034C>A" ], "proteinEffect": { "hgvs": "ENSP00000377977.2:p.Asp678Glu", "hgvsWellDefined": "ENSP00000377977.2:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS753263", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394464.7:c.2034C>A" }, "RefSeq": { "hgvs": "NM_000176.3:c.2034C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377977.2:p.Asp678Glu" }, "RefSeq": { "hgvs": "NP_000167.1:p.Asp678Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 1954, "referenceAllele": "C", "start": 1953 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000652686.1:c.1941C>A" ], "proteinEffect": { "hgvs": "ENSP00000498663.1:p.Asp647Glu", "hgvsWellDefined": "ENSP00000498663.1:p.Asp647Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS772352" }, { "coordinates": [ { "allele": "A", "end": 2529, "referenceAllele": "C", "start": 2528 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000231509.7:c.2037C>A" ], "proteinEffect": { "hgvs": "ENSP00000231509.3:p.Asp679Glu", "hgvsWellDefined": "ENSP00000231509.3:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS248798" }, { "coordinates": [ { "allele": "A", "end": 3028, "referenceAllele": "C", "start": 3027 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000343796.6:c.2034C>A" ], "proteinEffect": { "hgvs": "ENSP00000343205.2:p.Asp678Glu", "hgvsWellDefined": "ENSP00000343205.2:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS261833" }, { "coordinates": [ { "allele": "A", "end": 2537, "referenceAllele": "C", "start": 2536 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000394464.6:c.2034C>A" ], "proteinEffect": { "hgvs": "ENSP00000377977.2:p.Asp678Glu", "hgvsWellDefined": "ENSP00000377977.2:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS276180" }, { "coordinates": [ { "allele": "A", "end": 2194, "referenceAllele": "C", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000394466.6:c.2037C>A" ], "proteinEffect": { "hgvs": "ENSP00000377979.2:p.Asp679Glu", "hgvsWellDefined": "ENSP00000377979.2:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS276181" }, { "coordinates": [ { "allele": "A", "end": 2166, "referenceAllele": "C", "start": 2165 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000415690.6:c.2034C>A" ], "proteinEffect": { "hgvs": "ENSP00000387672.2:p.Asp678Glu", "hgvsWellDefined": "ENSP00000387672.2:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS284106" }, { "coordinates": [ { "allele": "A", "end": 1969, "referenceAllele": "C", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000424646.6:c.1956C>A" ], "proteinEffect": { "hgvs": "ENSP00000405282.2:p.Asp652Glu", "hgvsWellDefined": "ENSP00000405282.2:p.Asp652Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS288373" }, { "coordinates": [ { "allele": "A", "end": 2216, "referenceAllele": "C", "start": 2215 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000503201.1:c.2034C>A" ], "proteinEffect": { "hgvs": "ENSP00000427672.1:p.Asp678Glu", "hgvsWellDefined": "ENSP00000427672.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS335575" }, { "coordinates": [ { "allele": "A", "end": 2320, "referenceAllele": "C", "start": 2319 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000504572.5:c.2037C>A" ], "proteinEffect": { "hgvs": "ENSP00000422518.1:p.Asp679Glu", "hgvsWellDefined": "ENSP00000422518.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS336596" }, { "@id": "http://reg.genome.network/allele/PA3070930687", "coordinates": [ { "allele": "A", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_000176.2:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_000167.1:p.Asp678Glu", "hgvsWellDefined": "NP_000167.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006238" }, { "coordinates": [ { "allele": "A", "end": 2356, "referenceAllele": "C", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001018074.1:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001018084.1:p.Asp678Glu", "hgvsWellDefined": "NP_001018084.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS008685" }, { "coordinates": [ { "allele": "A", "end": 2259, "referenceAllele": "C", "start": 2258 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001018075.1:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001018085.1:p.Asp678Glu", "hgvsWellDefined": "NP_001018085.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS008686" }, { "coordinates": [ { "allele": "A", "end": 2152, "referenceAllele": "C", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001018076.1:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001018086.1:p.Asp678Glu", "hgvsWellDefined": "NP_001018086.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS008687" }, { "coordinates": [ { "allele": "A", "end": 3028, "referenceAllele": "C", "start": 3027 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001018077.1:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001018087.1:p.Asp678Glu", "hgvsWellDefined": "NP_001018087.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS008688" }, { "coordinates": [ { "allele": "A", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001020825.1:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001018661.1:p.Asp678Glu", "hgvsWellDefined": "NP_001018661.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS008722" }, { "coordinates": [ { "allele": "A", "end": 2529, "referenceAllele": "C", "start": 2528 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001024094.1:c.2037C>A" ], "proteinEffect": { "hgvs": "NP_001019265.1:p.Asp679Glu", "hgvsWellDefined": "NP_001019265.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS008739" }, { "coordinates": [ { "allele": "A", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204258.1:c.1956C>A" ], "proteinEffect": { "hgvs": "NP_001191187.1:p.Asp652Glu", "hgvsWellDefined": "NP_001191187.1:p.Asp652Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017577" }, { "coordinates": [ { "allele": "A", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204259.1:c.1779C>A" ], "proteinEffect": { "hgvs": "NP_001191188.1:p.Asp593Glu", "hgvsWellDefined": "NP_001191188.1:p.Asp593Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017578" }, { "coordinates": [ { "allele": "A", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204260.1:c.1767C>A" ], "proteinEffect": { "hgvs": "NP_001191189.1:p.Asp589Glu", "hgvsWellDefined": "NP_001191189.1:p.Asp589Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017579" }, { "coordinates": [ { "allele": "A", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204261.1:c.1743C>A" ], "proteinEffect": { "hgvs": "NP_001191190.1:p.Asp581Glu", "hgvsWellDefined": "NP_001191190.1:p.Asp581Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017580" }, { "coordinates": [ { "allele": "A", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204262.1:c.1089C>A" ], "proteinEffect": { "hgvs": "NP_001191191.1:p.Asp363Glu", "hgvsWellDefined": "NP_001191191.1:p.Asp363Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017581" }, { "coordinates": [ { "allele": "A", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204263.1:c.1044C>A" ], "proteinEffect": { "hgvs": "NP_001191192.1:p.Asp348Glu", "hgvsWellDefined": "NP_001191192.1:p.Asp348Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017582" }, { "coordinates": [ { "allele": "A", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204264.1:c.1029C>A" ], "proteinEffect": { "hgvs": "NP_001191193.1:p.Asp343Glu", "hgvsWellDefined": "NP_001191193.1:p.Asp343Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017583" }, { "coordinates": [ { "allele": "A", "end": 2259, "referenceAllele": "C", "start": 2258 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268419.2:c.2037C>A" ], "proteinEffect": { "hgvs": "XP_005268476.1:p.Asp679Glu", "hgvsWellDefined": "XP_005268476.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065746" }, { "coordinates": [ { "allele": "A", "end": 2255, "referenceAllele": "C", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268420.3:c.2037C>A" ], "proteinEffect": { "hgvs": "XP_005268477.1:p.Asp679Glu", "hgvsWellDefined": "XP_005268477.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065747" }, { "coordinates": [ { "allele": "A", "end": 2321, "referenceAllele": "C", "start": 2320 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268422.2:c.2037C>A" ], "proteinEffect": { "hgvs": "XP_005268479.1:p.Asp679Glu", "hgvsWellDefined": "XP_005268479.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065748" }, { "coordinates": [ { "allele": "A", "end": 2310, "referenceAllele": "C", "start": 2309 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268423.2:c.2037C>A" ], "proteinEffect": { "hgvs": "XP_005268480.1:p.Asp679Glu", "hgvsWellDefined": "XP_005268480.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065749" }, { "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_011537637.1:c.843C>A" ], "proteinEffect": { "hgvs": "XP_011535939.1:p.Asp281Glu", "hgvsWellDefined": "XP_011535939.1:p.Asp281Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS104600" }, { "coordinates": [ { "allele": "T", "end": 655, "endIntronDirection": "-", "endIntronOffset": 1983, "referenceAllele": "G", "start": 655, "startIntronDirection": "-", "startIntronOffset": 1984 } ], "hgvs": [ "XR_944371.1:n.656-1984G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138347" }, { "coordinates": [ { "allele": "A", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NR_157096.1:n.957C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531968" }, { "coordinates": [ { "allele": "A", "end": 2159, "referenceAllele": "C", "start": 2158 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268419.4:c.2037C>A" ], "proteinEffect": { "hgvs": "XP_005268476.1:p.Asp679Glu", "hgvsWellDefined": "XP_005268476.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536574" }, { "coordinates": [ { "allele": "A", "end": 2440, "referenceAllele": "C", "start": 2439 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268420.4:c.2037C>A" ], "proteinEffect": { "hgvs": "XP_005268477.1:p.Asp679Glu", "hgvsWellDefined": "XP_005268477.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536575" }, { "coordinates": [ { "allele": "A", "end": 2321, "referenceAllele": "C", "start": 2320 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268422.3:c.2037C>A" ], "proteinEffect": { "hgvs": "XP_005268479.1:p.Asp679Glu", "hgvsWellDefined": "XP_005268479.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536576" }, { "coordinates": [ { "allele": "A", "end": 2310, "referenceAllele": "C", "start": 2309 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268423.3:c.2037C>A" ], "proteinEffect": { "hgvs": "XP_005268480.1:p.Asp679Glu", "hgvsWellDefined": "XP_005268480.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536577" }, { "coordinates": [ { "allele": "A", "end": 10611, "referenceAllele": "C", "start": 10610 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_011537637.3:c.843C>A" ], "proteinEffect": { "hgvs": "XP_011535939.1:p.Asp281Glu", "hgvsWellDefined": "XP_011535939.1:p.Asp281Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS552965" }, { "coordinates": [ { "allele": "A", "end": 2152, "referenceAllele": "C", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_017009397.1:c.2034C>A" ], "proteinEffect": { "hgvs": "XP_016864886.1:p.Asp678Glu", "hgvsWellDefined": "XP_016864886.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS563732" }, { "coordinates": [ { "allele": "A", "end": 2451, "referenceAllele": "C", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_017009398.1:c.2034C>A" ], "proteinEffect": { "hgvs": "XP_016864887.1:p.Asp678Glu", "hgvsWellDefined": "XP_016864887.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS563733" }, { "@id": "http://reg.genome.network/allele/PA3070930687", "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_000176.3:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_000167.1:p.Asp678Glu", "hgvsWellDefined": "NP_000167.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS662340", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394464.7:c.2034C>A" }, "RefSeq": { "hgvs": "NM_000176.3:c.2034C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377977.2:p.Asp678Glu" }, "RefSeq": { "hgvs": "NP_000167.1:p.Asp678Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 2253, "referenceAllele": "C", "start": 2252 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364180.1:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001351109.1:p.Asp678Glu", "hgvsWellDefined": "NP_001351109.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664469" }, { "coordinates": [ { "allele": "A", "end": 2298, "referenceAllele": "C", "start": 2297 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364181.1:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001351110.1:p.Asp678Glu", "hgvsWellDefined": "NP_001351110.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664470" }, { "coordinates": [ { "allele": "A", "end": 2729, "referenceAllele": "C", "start": 2728 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364182.1:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001351111.1:p.Asp678Glu", "hgvsWellDefined": "NP_001351111.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664471" }, { "coordinates": [ { "allele": "A", "end": 2427, "referenceAllele": "C", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364183.1:c.2037C>A" ], "proteinEffect": { "hgvs": "NP_001351112.1:p.Asp679Glu", "hgvsWellDefined": "NP_001351112.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664472" }, { "coordinates": [ { "allele": "A", "end": 2157, "referenceAllele": "C", "start": 2156 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364184.1:c.2037C>A" ], "proteinEffect": { "hgvs": "NP_001351113.1:p.Asp679Glu", "hgvsWellDefined": "NP_001351113.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664473" }, { "coordinates": [ { "allele": "A", "end": 2732, "referenceAllele": "C", "start": 2731 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364185.1:c.2037C>A" ], "proteinEffect": { "hgvs": "NP_001351114.1:p.Asp679Glu", "hgvsWellDefined": "NP_001351114.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664474" }, { "coordinates": [ { "allele": "A", "end": 2154, "referenceAllele": "C", "start": 2153 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001018076.2:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001018086.1:p.Asp678Glu", "hgvsWellDefined": "NP_001018086.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS675593" }, { "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001020825.2:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001018661.1:p.Asp678Glu", "hgvsWellDefined": "NP_001018661.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS675605" }, { "coordinates": [ { "allele": "A", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001024094.2:c.2037C>A" ], "proteinEffect": { "hgvs": "NP_001019265.1:p.Asp679Glu", "hgvsWellDefined": "NP_001019265.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS675613" }, { "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204258.2:c.1956C>A" ], "proteinEffect": { "hgvs": "NP_001191187.1:p.Asp652Glu", "hgvsWellDefined": "NP_001191187.1:p.Asp652Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679804" }, { "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204259.2:c.1779C>A" ], "proteinEffect": { "hgvs": "NP_001191188.1:p.Asp593Glu", "hgvsWellDefined": "NP_001191188.1:p.Asp593Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679805" }, { "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204260.2:c.1767C>A" ], "proteinEffect": { "hgvs": "NP_001191189.1:p.Asp589Glu", "hgvsWellDefined": "NP_001191189.1:p.Asp589Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679806" }, { "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204261.2:c.1743C>A" ], "proteinEffect": { "hgvs": "NP_001191190.1:p.Asp581Glu", "hgvsWellDefined": "NP_001191190.1:p.Asp581Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679807" }, { "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204262.2:c.1089C>A" ], "proteinEffect": { "hgvs": "NP_001191191.1:p.Asp363Glu", "hgvsWellDefined": "NP_001191191.1:p.Asp363Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679808" }, { "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204263.2:c.1044C>A" ], "proteinEffect": { "hgvs": "NP_001191192.1:p.Asp348Glu", "hgvsWellDefined": "NP_001191192.1:p.Asp348Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679809" }, { "coordinates": [ { "allele": "A", "end": 2523, "referenceAllele": "C", "start": 2522 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204264.2:c.1029C>A" ], "proteinEffect": { "hgvs": "NP_001191193.1:p.Asp343Glu", "hgvsWellDefined": "NP_001191193.1:p.Asp343Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679810" }, { "coordinates": [ { "allele": "A", "end": 2253, "referenceAllele": "C", "start": 2252 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364180.2:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001351109.1:p.Asp678Glu", "hgvsWellDefined": "NP_001351109.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690825" }, { "coordinates": [ { "allele": "A", "end": 2298, "referenceAllele": "C", "start": 2297 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364181.2:c.2034C>A" ], "proteinEffect": { "hgvs": "NP_001351110.1:p.Asp678Glu", "hgvsWellDefined": "NP_001351110.1:p.Asp678Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690826" }, { "coordinates": [ { "allele": "A", "end": 2427, "referenceAllele": "C", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364183.2:c.2037C>A" ], "proteinEffect": { "hgvs": "NP_001351112.1:p.Asp679Glu", "hgvsWellDefined": "NP_001351112.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690827" }, { "coordinates": [ { "allele": "A", "end": 2157, "referenceAllele": "C", "start": 2156 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364184.2:c.2037C>A" ], "proteinEffect": { "hgvs": "NP_001351113.1:p.Asp679Glu", "hgvsWellDefined": "NP_001351113.1:p.Asp679Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690828" }, { "coordinates": [ { "allele": "A", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NR_157096.2:n.957C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704990" } ], "type": "nucleotide" }