{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA361868666", "communityStandardTitle": [ "NM_000176.3(NR3C1):c.2211C>G (p.Phe737Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.142661577G>C?assembly=hg19", "id": "chr5:g.142661577G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.143282012G>C?assembly=hg38", "id": "chr5:g.143282012G>C" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 143282012, "referenceAllele": "G", "start": 143282011 } ], "hgvs": [ "NC_000005.10:g.143282012G>C", "CM000667.2:g.143282012G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 142661577, "referenceAllele": "G", "start": 142661576 } ], "hgvs": [ "NC_000005.9:g.142661577G>C", "CM000667.1:g.142661577G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 142641770, "referenceAllele": "G", "start": 142641769 } ], "hgvs": [ "NC_000005.8:g.142641770G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "G", "end": 158501, "referenceAllele": "C", "start": 158500 } ], "hgvs": [ "NG_009062.1:g.158501C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001404" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000394464.7:c.2211C>G" ], "proteinEffect": { "hgvs": "ENSP00000377977.2:p.Phe737Leu", "hgvsWellDefined": "ENSP00000377977.2:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS753263", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394464.7:c.2211C>G" }, "RefSeq": { "hgvs": "NM_000176.3:c.2211C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377977.2:p.Phe737Leu" }, "RefSeq": { "hgvs": "NP_000167.1:p.Phe737Leu" } } } }, { "coordinates": [ { "allele": "G", "end": 2131, "referenceAllele": "C", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000652686.1:c.2118C>G" ], "proteinEffect": { "hgvs": "ENSP00000498663.1:p.Phe706Leu", "hgvsWellDefined": "ENSP00000498663.1:p.Phe706Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS772352" }, { "coordinates": [ { "allele": "G", "end": 2706, "referenceAllele": "C", "start": 2705 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000231509.7:c.2214C>G" ], "proteinEffect": { "hgvs": "ENSP00000231509.3:p.Phe738Leu", "hgvsWellDefined": "ENSP00000231509.3:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS248798" }, { "coordinates": [ { "allele": "G", "end": 3205, "referenceAllele": "C", "start": 3204 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000343796.6:c.2211C>G" ], "proteinEffect": { "hgvs": "ENSP00000343205.2:p.Phe737Leu", "hgvsWellDefined": "ENSP00000343205.2:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS261833" }, { "coordinates": [ { "allele": "G", "end": 2714, "referenceAllele": "C", "start": 2713 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000394464.6:c.2211C>G" ], "proteinEffect": { "hgvs": "ENSP00000377977.2:p.Phe737Leu", "hgvsWellDefined": "ENSP00000377977.2:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS276180" }, { "coordinates": [ { "allele": "G", "end": 2371, "referenceAllele": "C", "start": 2370 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000394466.6:c.2214C>G" ], "proteinEffect": { "hgvs": "ENSP00000377979.2:p.Phe738Leu", "hgvsWellDefined": "ENSP00000377979.2:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS276181" }, { "coordinates": [ { "allele": "G", "end": 2313, "endIntronDirection": "+", "endIntronOffset": 556, "referenceAllele": "C", "start": 2313, "startIntronDirection": "+", "startIntronOffset": 555 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000415690.6:c.2181+556C>G" ], "proteinEffect": { "hgvs": "ENSP00000387672.2:n.2181+556C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS284106" }, { "coordinates": [ { "allele": "G", "end": 2146, "referenceAllele": "C", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000424646.6:c.2133C>G" ], "proteinEffect": { "hgvs": "ENSP00000405282.2:p.Phe711Leu", "hgvsWellDefined": "ENSP00000405282.2:p.Phe711Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS288373" }, { "coordinates": [ { "allele": "G", "end": 2393, "referenceAllele": "C", "start": 2392 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000503201.1:c.2211C>G" ], "proteinEffect": { "hgvs": "ENSP00000427672.1:p.Phe737Leu", "hgvsWellDefined": "ENSP00000427672.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS335575" }, { "coordinates": [ { "allele": "G", "end": 2497, "referenceAllele": "C", "start": 2496 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "ENST00000504572.5:c.2214C>G" ], "proteinEffect": { "hgvs": "ENSP00000422518.1:p.Phe738Leu", "hgvsWellDefined": "ENSP00000422518.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS336596" }, { "@id": "http://reg.genome.network/allele/PA101196", "coordinates": [ { "allele": "G", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_000176.2:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_000167.1:p.Phe737Leu", "hgvsWellDefined": "NP_000167.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006238" }, { "@id": "http://reg.genome.network/allele/PA2825327617", "coordinates": [ { "allele": "G", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001018074.1:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_001018084.1:p.Phe737Leu", "hgvsWellDefined": "NP_001018084.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS008685" }, { "@id": "http://reg.genome.network/allele/PA2825327711", "coordinates": [ { "allele": "G", "end": 2436, "referenceAllele": "C", "start": 2435 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001018075.1:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_001018085.1:p.Phe737Leu", "hgvsWellDefined": "NP_001018085.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS008686" }, { "@id": "http://reg.genome.network/allele/PA2825327805", "coordinates": [ { "allele": "G", "end": 2329, "referenceAllele": "C", "start": 2328 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001018076.1:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_001018086.1:p.Phe737Leu", "hgvsWellDefined": "NP_001018086.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS008687" }, { "@id": "http://reg.genome.network/allele/PA126241", "coordinates": [ { "allele": "G", "end": 3205, "referenceAllele": "C", "start": 3204 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001018077.1:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_001018087.1:p.Phe737Leu", "hgvsWellDefined": "NP_001018087.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS008688" }, { "coordinates": [ { "allele": "G", "end": 2673, "endIntronDirection": "+", "endIntronOffset": 556, "referenceAllele": "C", "start": 2673, "startIntronDirection": "+", "startIntronOffset": 555 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001020825.1:c.2181+556C>G" ], "proteinEffect": { "hgvs": "NP_001018661.1:n.2181+556C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS008722" }, { "@id": "http://reg.genome.network/allele/PA2825332444", "coordinates": [ { "allele": "G", "end": 2706, "referenceAllele": "C", "start": 2705 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001024094.1:c.2214C>G" ], "proteinEffect": { "hgvs": "NP_001019265.1:p.Phe738Leu", "hgvsWellDefined": "NP_001019265.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS008739" }, { "@id": "http://reg.genome.network/allele/PA2826268936", "coordinates": [ { "allele": "G", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204258.1:c.2133C>G" ], "proteinEffect": { "hgvs": "NP_001191187.1:p.Phe711Leu", "hgvsWellDefined": "NP_001191187.1:p.Phe711Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017577" }, { "@id": "http://reg.genome.network/allele/PA2826269020", "coordinates": [ { "allele": "G", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204259.1:c.1956C>G" ], "proteinEffect": { "hgvs": "NP_001191188.1:p.Phe652Leu", "hgvsWellDefined": "NP_001191188.1:p.Phe652Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017578" }, { "@id": "http://reg.genome.network/allele/PA2826269103", "coordinates": [ { "allele": "G", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204260.1:c.1944C>G" ], "proteinEffect": { "hgvs": "NP_001191189.1:p.Phe648Leu", "hgvsWellDefined": "NP_001191189.1:p.Phe648Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017579" }, { "@id": "http://reg.genome.network/allele/PA2826269185", "coordinates": [ { "allele": "G", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204261.1:c.1920C>G" ], "proteinEffect": { "hgvs": "NP_001191190.1:p.Phe640Leu", "hgvsWellDefined": "NP_001191190.1:p.Phe640Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017580" }, { "@id": "http://reg.genome.network/allele/PA2826269232", "coordinates": [ { "allele": "G", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204262.1:c.1266C>G" ], "proteinEffect": { "hgvs": "NP_001191191.1:p.Phe422Leu", "hgvsWellDefined": "NP_001191191.1:p.Phe422Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017581" }, { "@id": "http://reg.genome.network/allele/PA2826269280", "coordinates": [ { "allele": "G", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204263.1:c.1221C>G" ], "proteinEffect": { "hgvs": "NP_001191192.1:p.Phe407Leu", "hgvsWellDefined": "NP_001191192.1:p.Phe407Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017582" }, { "@id": "http://reg.genome.network/allele/PA2826269327", "coordinates": [ { "allele": "G", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204264.1:c.1206C>G" ], "proteinEffect": { "hgvs": "NP_001191193.1:p.Phe402Leu", "hgvsWellDefined": "NP_001191193.1:p.Phe402Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017583" }, { "coordinates": [ { "allele": "G", "end": 2436, "referenceAllele": "C", "start": 2435 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268419.2:c.2214C>G" ], "proteinEffect": { "hgvs": "XP_005268476.1:p.Phe738Leu", "hgvsWellDefined": "XP_005268476.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065746" }, { "coordinates": [ { "allele": "G", "end": 2432, "referenceAllele": "C", "start": 2431 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268420.3:c.2214C>G" ], "proteinEffect": { "hgvs": "XP_005268477.1:p.Phe738Leu", "hgvsWellDefined": "XP_005268477.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065747" }, { "coordinates": [ { "allele": "G", "end": 2498, "referenceAllele": "C", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268422.2:c.2214C>G" ], "proteinEffect": { "hgvs": "XP_005268479.1:p.Phe738Leu", "hgvsWellDefined": "XP_005268479.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065748" }, { "coordinates": [ { "allele": "G", "end": 2487, "referenceAllele": "C", "start": 2486 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268423.2:c.2214C>G" ], "proteinEffect": { "hgvs": "XP_005268480.1:p.Phe738Leu", "hgvsWellDefined": "XP_005268480.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS065749" }, { "coordinates": [ { "allele": "G", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_011537637.1:c.1020C>G" ], "proteinEffect": { "hgvs": "XP_011535939.1:p.Phe340Leu", "hgvsWellDefined": "XP_011535939.1:p.Phe340Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS104600" }, { "coordinates": [ { "allele": "C", "end": 655, "endIntronDirection": "-", "endIntronOffset": 2686, "referenceAllele": "G", "start": 655, "startIntronDirection": "-", "startIntronOffset": 2687 } ], "hgvs": [ "XR_944371.1:n.656-2687G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS138347" }, { "coordinates": [ { "allele": "G", "end": 1134, "referenceAllele": "C", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NR_157096.1:n.1134C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531968" }, { "coordinates": [ { "allele": "G", "end": 2336, "referenceAllele": "C", "start": 2335 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268419.4:c.2214C>G" ], "proteinEffect": { "hgvs": "XP_005268476.1:p.Phe738Leu", "hgvsWellDefined": "XP_005268476.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536574" }, { "coordinates": [ { "allele": "G", "end": 2617, "referenceAllele": "C", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268420.4:c.2214C>G" ], "proteinEffect": { "hgvs": "XP_005268477.1:p.Phe738Leu", "hgvsWellDefined": "XP_005268477.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536575" }, { "coordinates": [ { "allele": "G", "end": 2498, "referenceAllele": "C", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268422.3:c.2214C>G" ], "proteinEffect": { "hgvs": "XP_005268479.1:p.Phe738Leu", "hgvsWellDefined": "XP_005268479.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536576" }, { "coordinates": [ { "allele": "G", "end": 2487, "referenceAllele": "C", "start": 2486 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_005268423.3:c.2214C>G" ], "proteinEffect": { "hgvs": "XP_005268480.1:p.Phe738Leu", "hgvsWellDefined": "XP_005268480.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS536577" }, { "coordinates": [ { "allele": "G", "end": 10788, "referenceAllele": "C", "start": 10787 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_011537637.3:c.1020C>G" ], "proteinEffect": { "hgvs": "XP_011535939.1:p.Phe340Leu", "hgvsWellDefined": "XP_011535939.1:p.Phe340Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS552965" }, { "coordinates": [ { "allele": "G", "end": 2329, "referenceAllele": "C", "start": 2328 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_017009397.1:c.2211C>G" ], "proteinEffect": { "hgvs": "XP_016864886.1:p.Phe737Leu", "hgvsWellDefined": "XP_016864886.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS563732" }, { "coordinates": [ { "allele": "G", "end": 2628, "referenceAllele": "C", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "XM_017009398.1:c.2211C>G" ], "proteinEffect": { "hgvs": "XP_016864887.1:p.Phe737Leu", "hgvsWellDefined": "XP_016864887.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS563733" }, { "@id": "http://reg.genome.network/allele/PA101196", "coordinates": [ { "allele": "G", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_000176.3:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_000167.1:p.Phe737Leu", "hgvsWellDefined": "NP_000167.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS662340", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394464.7:c.2211C>G" }, "RefSeq": { "hgvs": "NM_000176.3:c.2211C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377977.2:p.Phe737Leu" }, "RefSeq": { "hgvs": "NP_000167.1:p.Phe737Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2828131963", "coordinates": [ { "allele": "G", "end": 2430, "referenceAllele": "C", "start": 2429 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364180.1:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_001351109.1:p.Phe737Leu", "hgvsWellDefined": "NP_001351109.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664469" }, { "@id": "http://reg.genome.network/allele/PA2828132057", "coordinates": [ { "allele": "G", "end": 2475, "referenceAllele": "C", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364181.1:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_001351110.1:p.Phe737Leu", "hgvsWellDefined": "NP_001351110.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664470" }, { "@id": "http://reg.genome.network/allele/PA2828132151", "coordinates": [ { "allele": "G", "end": 2906, "referenceAllele": "C", "start": 2905 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364182.1:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_001351111.1:p.Phe737Leu", "hgvsWellDefined": "NP_001351111.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664471" }, { "@id": "http://reg.genome.network/allele/PA2828132245", "coordinates": [ { "allele": "G", "end": 2604, "referenceAllele": "C", "start": 2603 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364183.1:c.2214C>G" ], "proteinEffect": { "hgvs": "NP_001351112.1:p.Phe738Leu", "hgvsWellDefined": "NP_001351112.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664472" }, { "@id": "http://reg.genome.network/allele/PA2828132339", "coordinates": [ { "allele": "G", "end": 2334, "referenceAllele": "C", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364184.1:c.2214C>G" ], "proteinEffect": { "hgvs": "NP_001351113.1:p.Phe738Leu", "hgvsWellDefined": "NP_001351113.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664473" }, { "@id": "http://reg.genome.network/allele/PA916044696", "coordinates": [ { "allele": "G", "end": 2909, "referenceAllele": "C", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364185.1:c.2214C>G" ], "proteinEffect": { "hgvs": "NP_001351114.1:p.Phe738Leu", "hgvsWellDefined": "NP_001351114.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS664474" }, { "@id": "http://reg.genome.network/allele/PA2825327805", "coordinates": [ { "allele": "G", "end": 2331, "referenceAllele": "C", "start": 2330 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001018076.2:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_001018086.1:p.Phe737Leu", "hgvsWellDefined": "NP_001018086.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS675593" }, { "coordinates": [ { "allele": "G", "end": 2670, "endIntronDirection": "+", "endIntronOffset": 556, "referenceAllele": "C", "start": 2670, "startIntronDirection": "+", "startIntronOffset": 555 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001020825.2:c.2181+556C>G" ], "proteinEffect": { "hgvs": "NP_001018661.1:n.2181+556C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS675605" }, { "@id": "http://reg.genome.network/allele/PA2825332444", "coordinates": [ { "allele": "G", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001024094.2:c.2214C>G" ], "proteinEffect": { "hgvs": "NP_001019265.1:p.Phe738Leu", "hgvsWellDefined": "NP_001019265.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS675613" }, { "@id": "http://reg.genome.network/allele/PA2826268936", "coordinates": [ { "allele": "G", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204258.2:c.2133C>G" ], "proteinEffect": { "hgvs": "NP_001191187.1:p.Phe711Leu", "hgvsWellDefined": "NP_001191187.1:p.Phe711Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679804" }, { "@id": "http://reg.genome.network/allele/PA2826269020", "coordinates": [ { "allele": "G", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204259.2:c.1956C>G" ], "proteinEffect": { "hgvs": "NP_001191188.1:p.Phe652Leu", "hgvsWellDefined": "NP_001191188.1:p.Phe652Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679805" }, { "@id": "http://reg.genome.network/allele/PA2826269103", "coordinates": [ { "allele": "G", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204260.2:c.1944C>G" ], "proteinEffect": { "hgvs": "NP_001191189.1:p.Phe648Leu", "hgvsWellDefined": "NP_001191189.1:p.Phe648Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679806" }, { "@id": "http://reg.genome.network/allele/PA2826269185", "coordinates": [ { "allele": "G", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204261.2:c.1920C>G" ], "proteinEffect": { "hgvs": "NP_001191190.1:p.Phe640Leu", "hgvsWellDefined": "NP_001191190.1:p.Phe640Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679807" }, { "@id": "http://reg.genome.network/allele/PA2826269232", "coordinates": [ { "allele": "G", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204262.2:c.1266C>G" ], "proteinEffect": { "hgvs": "NP_001191191.1:p.Phe422Leu", "hgvsWellDefined": "NP_001191191.1:p.Phe422Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679808" }, { "@id": "http://reg.genome.network/allele/PA2826269280", "coordinates": [ { "allele": "G", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204263.2:c.1221C>G" ], "proteinEffect": { "hgvs": "NP_001191192.1:p.Phe407Leu", "hgvsWellDefined": "NP_001191192.1:p.Phe407Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679809" }, { "@id": "http://reg.genome.network/allele/PA2826269327", "coordinates": [ { "allele": "G", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001204264.2:c.1206C>G" ], "proteinEffect": { "hgvs": "NP_001191193.1:p.Phe402Leu", "hgvsWellDefined": "NP_001191193.1:p.Phe402Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS679810" }, { "@id": "http://reg.genome.network/allele/PA2828131963", "coordinates": [ { "allele": "G", "end": 2430, "referenceAllele": "C", "start": 2429 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364180.2:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_001351109.1:p.Phe737Leu", "hgvsWellDefined": "NP_001351109.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690825" }, { "@id": "http://reg.genome.network/allele/PA2828132057", "coordinates": [ { "allele": "G", "end": 2475, "referenceAllele": "C", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364181.2:c.2211C>G" ], "proteinEffect": { "hgvs": "NP_001351110.1:p.Phe737Leu", "hgvsWellDefined": "NP_001351110.1:p.Phe737Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690826" }, { "@id": "http://reg.genome.network/allele/PA2828132245", "coordinates": [ { "allele": "G", "end": 2604, "referenceAllele": "C", "start": 2603 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364183.2:c.2214C>G" ], "proteinEffect": { "hgvs": "NP_001351112.1:p.Phe738Leu", "hgvsWellDefined": "NP_001351112.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690827" }, { "@id": "http://reg.genome.network/allele/PA2828132339", "coordinates": [ { "allele": "G", "end": 2334, "referenceAllele": "C", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NM_001364184.2:c.2214C>G" ], "proteinEffect": { "hgvs": "NP_001351113.1:p.Phe738Leu", "hgvsWellDefined": "NP_001351113.1:p.Phe738Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690828" }, { "coordinates": [ { "allele": "G", "end": 1134, "referenceAllele": "C", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN007978", "geneNCBI_id": 2908, "geneSymbol": "NR3C1", "hgvs": [ "NR_157096.2:n.1134C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704990" } ], "type": "nucleotide" }