{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119802",
  "communityStandardTitle": [
    "NM_000163.5(GHR):c.703C>T (p.Arg235Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23678[alleleid]",
        "alleleId": 23678,
        "preferredName": "NM_000163.5(GHR):c.703C>T (p.Arg235Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8639",
        "RCV": [
          "RCV000009171",
          "RCV000760385"
        ],
        "variationId": 8639
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-42711393-C-T",
        "id": "5-42711393-C-T",
        "variant": "5:42711393 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.42711393C>T?assembly=hg19",
        "id": "chr5:g.42711393C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.42711291C>T?assembly=hg38",
        "id": "chr5:g.42711291C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909363",
        "rs": 121909363
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42711393-C-T?dataset=gnomad_r2_1",
        "id": "5-42711393-C-T",
        "variant": "5:42711393 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42711291-C-T?dataset=gnomad_r3",
        "id": "5-42711291-C-T",
        "variant": "5:42711291 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-42711291-C-T?dataset=gnomad_r4",
        "id": "5-42711291-C-T",
        "variant": "5:42711291 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 42711291,
          "referenceAllele": "C",
          "start": 42711290
        }
      ],
      "hgvs": [
        "NC_000005.10:g.42711291C>T",
        "CM000667.2:g.42711291C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 42711393,
          "referenceAllele": "C",
          "start": 42711392
        }
      ],
      "hgvs": [
        "NC_000005.9:g.42711393C>T",
        "CM000667.1:g.42711393C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 42747150,
          "referenceAllele": "C",
          "start": 42747149
        }
      ],
      "hgvs": [
        "NC_000005.8:g.42747150C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292368,
          "referenceAllele": "C",
          "start": 292367
        }
      ],
      "hgvs": [
        "NG_011688.1:g.292368C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292368,
          "referenceAllele": "C",
          "start": 292367
        }
      ],
      "hgvs": [
        "NG_011688.2:g.292368C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673555"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000230882.9:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230882.4:p.Arg235Ter",
        "hgvsWellDefined": "ENSP00000230882.4:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230882.9:c.703C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000163.5:c.703C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230882.4:p.Arg235Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000154.1:p.Arg235Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000230882.8:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230882.4:p.Arg235Ter",
        "hgvsWellDefined": "ENSP00000230882.4:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000357703.6:c.637C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350335.3:p.Arg213Ter",
        "hgvsWellDefined": "ENSP00000350335.3:p.Arg213_Pro616delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "C",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000511135.5:c.*315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422333.1:n.*315C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000537449.5:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442206.2:p.Arg235Ter",
        "hgvsWellDefined": "ENSP00000442206.2:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000612382.4:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478332.1:p.Arg235Ter",
        "hgvsWellDefined": "ENSP00000478332.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000612626.4:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479846.1:p.Arg235Ter",
        "hgvsWellDefined": "ENSP00000479846.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000615111.4:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478291.1:p.Arg235Ter",
        "hgvsWellDefined": "ENSP00000478291.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000618088.4:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482373.1:p.Arg235Ter",
        "hgvsWellDefined": "ENSP00000482373.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 861,
          "referenceAllele": "C",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000620156.4:c.724C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483403.1:p.Arg242Ter",
        "hgvsWellDefined": "ENSP00000483403.1:p.Arg242_Pro645delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "ENST00000622294.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483926.1:p.Arg235Ter",
        "hgvsWellDefined": "ENSP00000483926.1:p.Arg235_Asn295delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgLysGluAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119803",
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_000163.4:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000154.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_000154.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916005665",
      "coordinates": [
        {
          "allele": "T",
          "end": 861,
          "referenceAllele": "C",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242399.2:c.724C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229328.1:p.Arg242Ter",
        "hgvsWellDefined": "NP_001229328.1:p.Arg242_Pro645delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298987",
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242400.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229329.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_001229329.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299293",
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "C",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242401.3:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229330.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_001229330.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299600",
      "coordinates": [
        {
          "allele": "T",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242402.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229331.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_001229331.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299905",
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242403.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229332.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_001229332.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300212",
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242404.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229333.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_001229333.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300518",
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242405.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229334.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_001229334.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826300824",
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242406.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229335.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_001229335.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826301322",
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242460.1:c.637C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229389.1:p.Arg213Ter",
        "hgvsWellDefined": "NP_001229389.1:p.Arg213_Pro616delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826301621",
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242462.1:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229391.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_001229391.1:p.Arg235_Asn295delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgLysGluAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "XM_011514031.1:c.658C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512333.1:p.Arg220Ter",
        "hgvsWellDefined": "XP_011512333.1:p.Arg220_Pro623delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119803",
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_000163.5:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000154.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_000154.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662336",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230882.9:c.703C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000163.5:c.703C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230882.4:p.Arg235Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000154.1:p.Arg235Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299293",
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242401.4:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229330.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_001229330.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826299905",
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004263",
      "geneNCBI_id": 2690,
      "geneSymbol": "GHR",
      "hgvs": [
        "NM_001242403.3:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229332.1:p.Arg235Ter",
        "hgvsWellDefined": "NP_001229332.1:p.Arg235_Pro638delinsAsnSerGlyAsnTyrGlyGluPheSerGluValLeuTyrValThrLeuProGlnMetSerGlnPheThrCysGluGluAspPheTyrPheProTrpLeuLeuIleIleIlePheGlyIlePheGlyLeuThrValMetLeuPheValPheLeuPheSerLysGlnGlnArgIleLysMetLeuIleLeuProProValProValProLysIleLysGlyIleAspProAspLeuLeuLysGluGlyLysLeuGluGluValAsnThrIleLeuAlaIleHisAspSerTyrLysProGluPheHisSerAspAspSerTrpValGluPheIleGluLeuAspIleAspGluProAspGluLysThrGluGluSerAspThrAspArgLeuLeuSerSerAspHisGluLysSerHisSerAsnLeuGlyValLysAspGlyAspSerGlyArgThrSerCysCysGluProAspIleLeuGluThrAspPheAsnAlaAsnAspIleHisGluGlyThrSerGluValAlaGlnProGlnArgLeuLysGlyGluAlaAspLeuLeuCysLeuAspGlnLysAsnGlnAsnAsnSerProTyrHisAspAlaCysProAlaThrGlnGlnProSerValIleGlnAlaGluLysAsnLysProGlnProLeuProThrGluGlyAlaGluSerThrHisGlnAlaAlaHisIleGlnLeuSerAsnProSerSerLeuSerAsnIleAspPheTyrAlaGlnValSerAspIleThrProAlaGlySerValValLeuSerProGlyGlnLysAsnLysAlaGlyMetSerGlnCysAspMetHisProGluMetValSerLeuCysGlnGluAsnPheLeuMetAspAsnAlaTyrPheCysGluAlaAspAlaLysLysCysIleProValAlaProHisIleLysValGluSerHisIleGlnProSerLeuAsnGlnGluAspIleTyrIleThrThrGluSerLeuThrThrAlaAlaGlyArgProGlyThrGlyGluHisValProGlySerGluMetProValProAspTyrThrSerIleHisIleValGlnSerProGlnGlyLeuIleLeuAsnAlaThrAlaLeuProLeuProAspLysGluPheLeuSerSerCysGlyTyrValSerThrAspGlnLeuAsnLysIleMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714315"
    }
  ],
  "type": "nucleotide"
}