{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117691",
  "communityStandardTitle": [
    "NM_012448.4(STAT5B):c.454C>T (p.Arg152Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20736[alleleid]",
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        "preferredName": "NM_012448.4(STAT5B):c.454C>T (p.Arg152Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5697",
        "RCV": [
          "RCV000006051"
        ],
        "variationId": 5697
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40375496G>A?assembly=hg19",
        "id": "chr17:g.40375496G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42223478G>A?assembly=hg38",
        "id": "chr17:g.42223478G>A"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908502",
        "rs": 121908502
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    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/17-42223478-G-A?dataset=gnomad_r4",
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        "variant": "17:42223478 G / A"
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    ]
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      "referenceGenome": "GRCh38",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000519"
    }
  ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS904722"
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      "referenceSequence": "http://reg.genome.network/refseq/RS909727"
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    {
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        {
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      "hgvs": [
        "ENST00000698775.1:c.*460C>T"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS909728"
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      "coordinates": [
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          "allele": "T",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS909729"
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      "referenceSequence": "http://reg.genome.network/refseq/RS909730"
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      "referenceSequence": "http://reg.genome.network/refseq/RS909731"
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      "referenceSequence": "http://reg.genome.network/refseq/RS909760"
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      "referenceSequence": "http://reg.genome.network/refseq/RS909764"
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      "referenceSequence": "http://reg.genome.network/refseq/RS909765"
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      "referenceSequence": "http://reg.genome.network/refseq/RS909767"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744159",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000293328.8:c.454C>T"
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          "RefSeq": {
            "hgvs": "NM_012448.4:c.454C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293328.3:p.Arg152Ter"
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          "RefSeq": {
            "hgvs": "NP_036580.2:p.Arg152Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 622
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000293328.3:p.Arg152_Ser787delinsLeuValThrGlnAspThrGluAsnGluLeuLysLysLeuGlnGlnThrGlnGluTyrPheIleIleGlnTyrGlnGluSerLeuArgIleGlnAlaGlnPheGlyProLeuAlaGlnLeuSerProGlnGluArgLeuSerArgGluThrAlaLeuGlnGlnLysGlnValSerLeuGluAlaTrpLeuGlnArgGluAlaGlnThrLeuGlnGlnTyrArgValGluLeuAlaGluLysHisGlnLysThrLeuGlnLeuLeuArgLysGlnGlnThrIleIleLeuAspAspGluLeuIleGlnTrpLysArgArgGlnGlnLeuAlaGlyAsnGlyGlyProProGluGlySerLeuAspValLeuGlnSerTrpCysGluLysLeuAlaGluIleIleTrpGlnAsnArgGlnGlnIleArgArgAlaGluHisLeuCysGlnGlnLeuProIleProGlyProValGluGluMetLeuAlaGluValAsnAlaThrIleThrAspIleIleSerAlaLeuValThrSerThrPheIleIleGluLysGlnProProGlnValLeuLysThrGlnThrLysPheAlaAlaThrValArgLeuLeuValGlyGlyLysLeuAsnValHisMetAsnProProGlnValLysAlaThrIleIleSerGluGlnGlnAlaLysSerLeuLeuLysAsnGluAsnThrArgAsnAspTyrSerGlyGluIleLeuAsnAsnCysCysValMetGluTyrHisGlnAlaThrGlyThrLeuSerAlaHisPheArgAsnMetSerLeuLysArgIleLysArgSerAspArgArgGlyAlaGluSerValThrGluGluLysPheThrIleLeuPheGluSerGlnPheSerValGlyGlyAsnGluLeuValPheGlnValLysThrLeuSerLeuProValValValIleValHisGlySerGlnAspAsnAsnAlaThrAlaThrValLeuTrpAspAsnAlaPheAlaGluProGlyArgValProPheAlaValProAspLysValLeuTrpProGlnLeuCysGluAlaLeuAsnMetLysPheLysAlaGluValGlnSerAsnArgGlyLeuThrLysGluAsnLeuValPheLeuAlaGlnLysLeuPheAsnAsnSerSerSerHisLeuGluAspTyrSerGlyLeuSerValSerTrpSerGlnPheAsnArgGluAsnLeuProGlyArgAsnTyrThrPheTrpGlnTrpPheAspGlyValMetGluValLeuLysLysHisLeuLysProHisTrpAsnAspGlyAlaIleLeuGlyPheValAsnLysGlnGlnAlaHisAspLeuLeuIleAsnLysProAspGlyThrPheLeuLeuArgPheSerAspSerGluIleGlyGlyIleThrIleAlaTrpLysPheAspSerGlnGluArgMetPheTrpAsnLeuMetProPheThrThrArgAspPheSerIleArgSerLeuAlaAspArgLeuGlyAspLeuAsnTyrLeuIleTyrValPheProAspArgProLysAspGluValTyrSerLysTyrTyrThrProValProCysGluSerAlaThrAlaLysAlaValAspGlyTyrValLysProGlnIleLysGlnValValProGluPheValAsnAlaSerAlaAspAlaGlyGlyGlySerAlaThrTyrMetAspGlnAlaProSerProAlaValCysProGlnAlaHisTyrAsnMetTyrProGlnAsnProAspSerValLeuAspThrAspGlyAspPheAspLeuGluAspThrMetAspValAlaArgArgValGluGluLeuLeuGlyArgProMetAspSerGlnTrpIleProHisAlaGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "ENST00000415845.1:c.454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398379.1:p.Arg152Ter",
        "hgvsWellDefined": "ENSP00000398379.1:p.Arg152Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
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      "hgvs": [
        "ENST00000468312.1:n.623C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117693",
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "NM_012448.3:c.454C>T",
        "LRG_192t1:c.454C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036580.2:p.Arg152Ter",
        "hgvsWellDefined": "NP_036580.2:p.Arg152_Ser787delinsLeuValThrGlnAspThrGluAsnGluLeuLysLysLeuGlnGlnThrGlnGluTyrPheIleIleGlnTyrGlnGluSerLeuArgIleGlnAlaGlnPheGlyProLeuAlaGlnLeuSerProGlnGluArgLeuSerArgGluThrAlaLeuGlnGlnLysGlnValSerLeuGluAlaTrpLeuGlnArgGluAlaGlnThrLeuGlnGlnTyrArgValGluLeuAlaGluLysHisGlnLysThrLeuGlnLeuLeuArgLysGlnGlnThrIleIleLeuAspAspGluLeuIleGlnTrpLysArgArgGlnGlnLeuAlaGlyAsnGlyGlyProProGluGlySerLeuAspValLeuGlnSerTrpCysGluLysLeuAlaGluIleIleTrpGlnAsnArgGlnGlnIleArgArgAlaGluHisLeuCysGlnGlnLeuProIleProGlyProValGluGluMetLeuAlaGluValAsnAlaThrIleThrAspIleIleSerAlaLeuValThrSerThrPheIleIleGluLysGlnProProGlnValLeuLysThrGlnThrLysPheAlaAlaThrValArgLeuLeuValGlyGlyLysLeuAsnValHisMetAsnProProGlnValLysAlaThrIleIleSerGluGlnGlnAlaLysSerLeuLeuLysAsnGluAsnThrArgAsnAspTyrSerGlyGluIleLeuAsnAsnCysCysValMetGluTyrHisGlnAlaThrGlyThrLeuSerAlaHisPheArgAsnMetSerLeuLysArgIleLysArgSerAspArgArgGlyAlaGluSerValThrGluGluLysPheThrIleLeuPheGluSerGlnPheSerValGlyGlyAsnGluLeuValPheGlnValLysThrLeuSerLeuProValValValIleValHisGlySerGlnAspAsnAsnAlaThrAlaThrValLeuTrpAspAsnAlaPheAlaGluProGlyArgValProPheAlaValProAspLysValLeuTrpProGlnLeuCysGluAlaLeuAsnMetLysPheLysAlaGluValGlnSerAsnArgGlyLeuThrLysGluAsnLeuValPheLeuAlaGlnLysLeuPheAsnAsnSerSerSerHisLeuGluAspTyrSerGlyLeuSerValSerTrpSerGlnPheAsnArgGluAsnLeuProGlyArgAsnTyrThrPheTrpGlnTrpPheAspGlyValMetGluValLeuLysLysHisLeuLysProHisTrpAsnAspGlyAlaIleLeuGlyPheValAsnLysGlnGlnAlaHisAspLeuLeuIleAsnLysProAspGlyThrPheLeuLeuArgPheSerAspSerGluIleGlyGlyIleThrIleAlaTrpLysPheAspSerGlnGluArgMetPheTrpAsnLeuMetProPheThrThrArgAspPheSerIleArgSerLeuAlaAspArgLeuGlyAspLeuAsnTyrLeuIleTyrValPheProAspArgProLysAspGluValTyrSerLysTyrTyrThrProValProCysGluSerAlaThrAlaLysAlaValAspGlyTyrValLysProGlnIleLysGlnValValProGluPheValAsnAlaSerAlaAspAlaGlyGlyGlySerAlaThrTyrMetAspGlnAlaProSerProAlaValCysProGlnAlaHisTyrAsnMetTyrProGlnAsnProAspSerValLeuAspThrAspGlyAspPheAspLeuGluAspThrMetAspValAlaArgArgValGluGluLeuLeuGlyArgProMetAspSerGlnTrpIleProHisAlaGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "XM_005257625.2:c.172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257682.1:p.Arg58Ter",
        "hgvsWellDefined": "XP_005257682.1:p.Arg58_Ser693delinsLeuValThrGlnAspThrGluAsnGluLeuLysLysLeuGlnGlnThrGlnGluTyrPheIleIleGlnTyrGlnGluSerLeuArgIleGlnAlaGlnPheGlyProLeuAlaGlnLeuSerProGlnGluArgLeuSerArgGluThrAlaLeuGlnGlnLysGlnValSerLeuGluAlaTrpLeuGlnArgGluAlaGlnThrLeuGlnGlnTyrArgValGluLeuAlaGluLysHisGlnLysThrLeuGlnLeuLeuArgLysGlnGlnThrIleIleLeuAspAspGluLeuIleGlnTrpLysArgArgGlnGlnLeuAlaGlyAsnGlyGlyProProGluGlySerLeuAspValLeuGlnSerTrpCysGluLysLeuAlaGluIleIleTrpGlnAsnArgGlnGlnIleArgArgAlaGluHisLeuCysGlnGlnLeuProIleProGlyProValGluGluMetLeuAlaGluValAsnAlaThrIleThrAspIleIleSerAlaLeuValThrSerThrPheIleIleGluLysGlnProProGlnValLeuLysThrGlnThrLysPheAlaAlaThrValArgLeuLeuValGlyGlyLysLeuAsnValHisMetAsnProProGlnValLysAlaThrIleIleSerGluGlnGlnAlaLysSerLeuLeuLysAsnGluAsnThrArgAsnAspTyrSerGlyGluIleLeuAsnAsnCysCysValMetGluTyrHisGlnAlaThrGlyThrLeuSerAlaHisPheArgAsnMetSerLeuLysArgIleLysArgSerAspArgArgGlyAlaGluSerValThrGluGluLysPheThrIleLeuPheGluSerGlnPheSerValGlyGlyAsnGluLeuValPheGlnValLysThrLeuSerLeuProValValValIleValHisGlySerGlnAspAsnAsnAlaThrAlaThrValLeuTrpAspAsnAlaPheAlaGluProGlyArgValProPheAlaValProAspLysValLeuTrpProGlnLeuCysGluAlaLeuAsnMetLysPheLysAlaGluValGlnSerAsnArgGlyLeuThrLysGluAsnLeuValPheLeuAlaGlnLysLeuPheAsnAsnSerSerSerHisLeuGluAspTyrSerGlyLeuSerValSerTrpSerGlnPheAsnArgGluAsnLeuProGlyArgAsnTyrThrPheTrpGlnTrpPheAspGlyValMetGluValLeuLysLysHisLeuLysProHisTrpAsnAspGlyAlaIleLeuGlyPheValAsnLysGlnGlnAlaHisAspLeuLeuIleAsnLysProAspGlyThrPheLeuLeuArgPheSerAspSerGluIleGlyGlyIleThrIleAlaTrpLysPheAspSerGlnGluArgMetPheTrpAsnLeuMetProPheThrThrArgAspPheSerIleArgSerLeuAlaAspArgLeuGlyAspLeuAsnTyrLeuIleTyrValPheProAspArgProLysAspGluValTyrSerLysTyrTyrThrProValProCysGluSerAlaThrAlaLysAlaValAspGlyTyrValLysProGlnIleLysGlnValValProGluPheValAsnAlaSerAlaAspAlaGlyGlyGlySerAlaThrTyrMetAspGlnAlaProSerProAlaValCysProGlnAlaHisTyrAsnMetTyrProGlnAsnProAspSerValLeuAspThrAspGlyAspPheAspLeuGluAspThrMetAspValAlaArgArgValGluGluLeuLeuGlyArgProMetAspSerGlnTrpIleProHisAlaGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "XM_005257626.3:c.454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257683.1:p.Arg152Ter",
        "hgvsWellDefined": "XP_005257683.1:p.Arg152_Cys497delinsLeuValThrGlnAspThrGluAsnGluLeuLysLysLeuGlnGlnThrGlnGluTyrPheIleIleGlnTyrGlnGluSerLeuArgIleGlnAlaGlnPheGlyProLeuAlaGlnLeuSerProGlnGluArgLeuSerArgGluThrAlaLeuGlnGlnLysGlnValSerLeuGluAlaTrpLeuGlnArgGluAlaGlnThrLeuGlnGlnTyrArgValGluLeuAlaGluLysHisGlnLysThrLeuGlnLeuLeuArgLysGlnGlnThrIleIleLeuAspAspGluLeuIleGlnTrpLysArgArgGlnGlnLeuAlaGlyAsnGlyGlyProProGluGlySerLeuAspValLeuGlnSerTrpCysGluLysLeuAlaGluIleIleTrpGlnAsnArgGlnGlnIleArgArgAlaGluHisLeuCysGlnGlnLeuProIleProGlyProValGluGluMetLeuAlaGluValAsnAlaThrIleThrAspIleIleSerAlaLeuValThrSerThrPheIleIleGluLysGlnProProGlnValLeuLysThrGlnThrLysPheAlaAlaThrValArgLeuLeuValGlyGlyLysLeuAsnValHisMetAsnProProGlnValLysAlaThrIleIleSerGluGlnGlnAlaLysSerLeuLeuLysAsnGluAsnThrArgAsnAspTyrSerGlyGluIleLeuAsnAsnCysCysValMetGluTyrHisGlnAlaThrGlyThrLeuSerAlaHisPheArgAsnMetSerLeuLysArgIleLysArgSerAspArgArgGlyAlaGluSerValThrGluGluLysPheThrIleLeuPheGluSerGlnPheSerValGlyGlyAsnGluLeuValPheGlnValLysThrLeuSerLeuProValValValIleValHisGlySerGlnAspAsnAsnAlaThrAlaThrValLeuTrpAspAsnAlaPheAlaGluProAsnIleGlyPheAspCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
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      "hgvs": [
        "XM_005257626.4:c.454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257683.1:p.Arg152Ter",
        "hgvsWellDefined": "XP_005257683.1:p.Arg152_Cys497delinsLeuValThrGlnAspThrGluAsnGluLeuLysLysLeuGlnGlnThrGlnGluTyrPheIleIleGlnTyrGlnGluSerLeuArgIleGlnAlaGlnPheGlyProLeuAlaGlnLeuSerProGlnGluArgLeuSerArgGluThrAlaLeuGlnGlnLysGlnValSerLeuGluAlaTrpLeuGlnArgGluAlaGlnThrLeuGlnGlnTyrArgValGluLeuAlaGluLysHisGlnLysThrLeuGlnLeuLeuArgLysGlnGlnThrIleIleLeuAspAspGluLeuIleGlnTrpLysArgArgGlnGlnLeuAlaGlyAsnGlyGlyProProGluGlySerLeuAspValLeuGlnSerTrpCysGluLysLeuAlaGluIleIleTrpGlnAsnArgGlnGlnIleArgArgAlaGluHisLeuCysGlnGlnLeuProIleProGlyProValGluGluMetLeuAlaGluValAsnAlaThrIleThrAspIleIleSerAlaLeuValThrSerThrPheIleIleGluLysGlnProProGlnValLeuLysThrGlnThrLysPheAlaAlaThrValArgLeuLeuValGlyGlyLysLeuAsnValHisMetAsnProProGlnValLysAlaThrIleIleSerGluGlnGlnAlaLysSerLeuLeuLysAsnGluAsnThrArgAsnAspTyrSerGlyGluIleLeuAsnAsnCysCysValMetGluTyrHisGlnAlaThrGlyThrLeuSerAlaHisPheArgAsnMetSerLeuLysArgIleLysArgSerAspArgArgGlyAlaGluSerValThrGluGluLysPheThrIleLeuPheGluSerGlnPheSerValGlyGlyAsnGluLeuValPheGlnValLysThrLeuSerLeuProValValValIleValHisGlySerGlnAspAsnAsnAlaThrAlaThrValLeuTrpAspAsnAlaPheAlaGluProAsnIleGlyPheAspCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "C",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "XM_017024977.1:c.172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880466.1:p.Arg58Ter",
        "hgvsWellDefined": "XP_016880466.1:p.Arg58_Ser693delinsLeuValThrGlnAspThrGluAsnGluLeuLysLysLeuGlnGlnThrGlnGluTyrPheIleIleGlnTyrGlnGluSerLeuArgIleGlnAlaGlnPheGlyProLeuAlaGlnLeuSerProGlnGluArgLeuSerArgGluThrAlaLeuGlnGlnLysGlnValSerLeuGluAlaTrpLeuGlnArgGluAlaGlnThrLeuGlnGlnTyrArgValGluLeuAlaGluLysHisGlnLysThrLeuGlnLeuLeuArgLysGlnGlnThrIleIleLeuAspAspGluLeuIleGlnTrpLysArgArgGlnGlnLeuAlaGlyAsnGlyGlyProProGluGlySerLeuAspValLeuGlnSerTrpCysGluLysLeuAlaGluIleIleTrpGlnAsnArgGlnGlnIleArgArgAlaGluHisLeuCysGlnGlnLeuProIleProGlyProValGluGluMetLeuAlaGluValAsnAlaThrIleThrAspIleIleSerAlaLeuValThrSerThrPheIleIleGluLysGlnProProGlnValLeuLysThrGlnThrLysPheAlaAlaThrValArgLeuLeuValGlyGlyLysLeuAsnValHisMetAsnProProGlnValLysAlaThrIleIleSerGluGlnGlnAlaLysSerLeuLeuLysAsnGluAsnThrArgAsnAspTyrSerGlyGluIleLeuAsnAsnCysCysValMetGluTyrHisGlnAlaThrGlyThrLeuSerAlaHisPheArgAsnMetSerLeuLysArgIleLysArgSerAspArgArgGlyAlaGluSerValThrGluGluLysPheThrIleLeuPheGluSerGlnPheSerValGlyGlyAsnGluLeuValPheGlnValLysThrLeuSerLeuProValValValIleValHisGlySerGlnAspAsnAsnAlaThrAlaThrValLeuTrpAspAsnAlaPheAlaGluProGlyArgValProPheAlaValProAspLysValLeuTrpProGlnLeuCysGluAlaLeuAsnMetLysPheLysAlaGluValGlnSerAsnArgGlyLeuThrLysGluAsnLeuValPheLeuAlaGlnLysLeuPheAsnAsnSerSerSerHisLeuGluAspTyrSerGlyLeuSerValSerTrpSerGlnPheAsnArgGluAsnLeuProGlyArgAsnTyrThrPheTrpGlnTrpPheAspGlyValMetGluValLeuLysLysHisLeuLysProHisTrpAsnAspGlyAlaIleLeuGlyPheValAsnLysGlnGlnAlaHisAspLeuLeuIleAsnLysProAspGlyThrPheLeuLeuArgPheSerAspSerGluIleGlyGlyIleThrIleAlaTrpLysPheAspSerGlnGluArgMetPheTrpAsnLeuMetProPheThrThrArgAspPheSerIleArgSerLeuAlaAspArgLeuGlyAspLeuAsnTyrLeuIleTyrValPheProAspArgProLysAspGluValTyrSerLysTyrTyrThrProValProCysGluSerAlaThrAlaLysAlaValAspGlyTyrValLysProGlnIleLysGlnValValProGluPheValAsnAlaSerAlaAspAlaGlyGlyGlySerAlaThrTyrMetAspGlnAlaProSerProAlaValCysProGlnAlaHisTyrAsnMetTyrProGlnAsnProAspSerValLeuAspThrAspGlyAspPheAspLeuGluAspThrMetAspValAlaArgArgValGluGluLeuLeuGlyArgProMetAspSerGlnTrpIleProHisAlaGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "XM_024450897.1:c.454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306665.1:p.Arg152Ter",
        "hgvsWellDefined": "XP_024306665.1:p.Arg152_Ser787delinsLeuValThrGlnAspThrGluAsnGluLeuLysLysLeuGlnGlnThrGlnGluTyrPheIleIleGlnTyrGlnGluSerLeuArgIleGlnAlaGlnPheGlyProLeuAlaGlnLeuSerProGlnGluArgLeuSerArgGluThrAlaLeuGlnGlnLysGlnValSerLeuGluAlaTrpLeuGlnArgGluAlaGlnThrLeuGlnGlnTyrArgValGluLeuAlaGluLysHisGlnLysThrLeuGlnLeuLeuArgLysGlnGlnThrIleIleLeuAspAspGluLeuIleGlnTrpLysArgArgGlnGlnLeuAlaGlyAsnGlyGlyProProGluGlySerLeuAspValLeuGlnSerTrpCysGluLysLeuAlaGluIleIleTrpGlnAsnArgGlnGlnIleArgArgAlaGluHisLeuCysGlnGlnLeuProIleProGlyProValGluGluMetLeuAlaGluValAsnAlaThrIleThrAspIleIleSerAlaLeuValThrSerThrPheIleIleGluLysGlnProProGlnValLeuLysThrGlnThrLysPheAlaAlaThrValArgLeuLeuValGlyGlyLysLeuAsnValHisMetAsnProProGlnValLysAlaThrIleIleSerGluGlnGlnAlaLysSerLeuLeuLysAsnGluAsnThrArgAsnAspTyrSerGlyGluIleLeuAsnAsnCysCysValMetGluTyrHisGlnAlaThrGlyThrLeuSerAlaHisPheArgAsnMetSerLeuLysArgIleLysArgSerAspArgArgGlyAlaGluSerValThrGluGluLysPheThrIleLeuPheGluSerGlnPheSerValGlyGlyAsnGluLeuValPheGlnValLysThrLeuSerLeuProValValValIleValHisGlySerGlnAspAsnAsnAlaThrAlaThrValLeuTrpAspAsnAlaPheAlaGluProGlyArgValProPheAlaValProAspLysValLeuTrpProGlnLeuCysGluAlaLeuAsnMetLysPheLysAlaGluValGlnSerAsnArgGlyLeuThrLysGluAsnLeuValPheLeuAlaGlnLysLeuPheAsnAsnSerSerSerHisLeuGluAspTyrSerGlyLeuSerValSerTrpSerGlnPheAsnArgGluAsnLeuProGlyArgAsnTyrThrPheTrpGlnTrpPheAspGlyValMetGluValLeuLysLysHisLeuLysProHisTrpAsnAspGlyAlaIleLeuGlyPheValAsnLysGlnGlnAlaHisAspLeuLeuIleAsnLysProAspGlyThrPheLeuLeuArgPheSerAspSerGluIleGlyGlyIleThrIleAlaTrpLysPheAspSerGlnGluArgMetPheTrpAsnLeuMetProPheThrThrArgAspPheSerIleArgSerLeuAlaAspArgLeuGlyAspLeuAsnTyrLeuIleTyrValPheProAspArgProLysAspGluValTyrSerLysTyrTyrThrProValProCysGluSerAlaThrAlaLysAlaValAspGlyTyrValLysProGlnIleLysGlnValValProGluPheValAsnAlaSerAlaAspAlaGlyGlyGlySerAlaThrTyrMetAspGlnAlaProSerProAlaValCysProGlnAlaHisTyrAsnMetTyrProGlnAsnProAspSerValLeuAspThrAspGlyAspPheAspLeuGluAspThrMetAspValAlaArgArgValGluGluLeuLeuGlyArgProMetAspSerGlnTrpIleProHisAlaGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "XM_024450898.1:c.454C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306666.1:p.Arg152Ter",
        "hgvsWellDefined": "XP_024306666.1:p.Arg152_Ser787delinsLeuValThrGlnAspThrGluAsnGluLeuLysLysLeuGlnGlnThrGlnGluTyrPheIleIleGlnTyrGlnGluSerLeuArgIleGlnAlaGlnPheGlyProLeuAlaGlnLeuSerProGlnGluArgLeuSerArgGluThrAlaLeuGlnGlnLysGlnValSerLeuGluAlaTrpLeuGlnArgGluAlaGlnThrLeuGlnGlnTyrArgValGluLeuAlaGluLysHisGlnLysThrLeuGlnLeuLeuArgLysGlnGlnThrIleIleLeuAspAspGluLeuIleGlnTrpLysArgArgGlnGlnLeuAlaGlyAsnGlyGlyProProGluGlySerLeuAspValLeuGlnSerTrpCysGluLysLeuAlaGluIleIleTrpGlnAsnArgGlnGlnIleArgArgAlaGluHisLeuCysGlnGlnLeuProIleProGlyProValGluGluMetLeuAlaGluValAsnAlaThrIleThrAspIleIleSerAlaLeuValThrSerThrPheIleIleGluLysGlnProProGlnValLeuLysThrGlnThrLysPheAlaAlaThrValArgLeuLeuValGlyGlyLysLeuAsnValHisMetAsnProProGlnValLysAlaThrIleIleSerGluGlnGlnAlaLysSerLeuLeuLysAsnGluAsnThrArgAsnAspTyrSerGlyGluIleLeuAsnAsnCysCysValMetGluTyrHisGlnAlaThrGlyThrLeuSerAlaHisPheArgAsnMetSerLeuLysArgIleLysArgSerAspArgArgGlyAlaGluSerValThrGluGluLysPheThrIleLeuPheGluSerGlnPheSerValGlyGlyAsnGluLeuValPheGlnValLysThrLeuSerLeuProValValValIleValHisGlySerGlnAspAsnAsnAlaThrAlaThrValLeuTrpAspAsnAlaPheAlaGluProGlyArgValProPheAlaValProAspLysValLeuTrpProGlnLeuCysGluAlaLeuAsnMetLysPheLysAlaGluValGlnSerAsnArgGlyLeuThrLysGluAsnLeuValPheLeuAlaGlnLysLeuPheAsnAsnSerSerSerHisLeuGluAspTyrSerGlyLeuSerValSerTrpSerGlnPheAsnArgGluAsnLeuProGlyArgAsnTyrThrPheTrpGlnTrpPheAspGlyValMetGluValLeuLysLysHisLeuLysProHisTrpAsnAspGlyAlaIleLeuGlyPheValAsnLysGlnGlnAlaHisAspLeuLeuIleAsnLysProAspGlyThrPheLeuLeuArgPheSerAspSerGluIleGlyGlyIleThrIleAlaTrpLysPheAspSerGlnGluArgMetPheTrpAsnLeuMetProPheThrThrArgAspPheSerIleArgSerLeuAlaAspArgLeuGlyAspLeuAsnTyrLeuIleTyrValPheProAspArgProLysAspGluValTyrSerLysTyrTyrThrProValProCysGluSerAlaThrAlaLysAlaValAspGlyTyrValLysProGlnIleLysGlnValValProGluPheValAsnAlaSerAlaAspAlaGlyGlyGlySerAlaThrTyrMetAspGlnAlaProSerProAlaValCysProGlnAlaHisTyrAsnMetTyrProGlnAsnProAspSerValLeuAspThrAspGlyAspPheAspLeuGluAspThrMetAspValAlaArgArgValGluGluLeuLeuGlyArgProMetAspSerGlnTrpIleProHisAlaGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117693",
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011367",
      "geneNCBI_id": 6777,
      "geneSymbol": "STAT5B",
      "hgvs": [
        "NM_012448.4:c.454C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036580.2:p.Arg152Ter",
        "hgvsWellDefined": "NP_036580.2:p.Arg152_Ser787delinsLeuValThrGlnAspThrGluAsnGluLeuLysLysLeuGlnGlnThrGlnGluTyrPheIleIleGlnTyrGlnGluSerLeuArgIleGlnAlaGlnPheGlyProLeuAlaGlnLeuSerProGlnGluArgLeuSerArgGluThrAlaLeuGlnGlnLysGlnValSerLeuGluAlaTrpLeuGlnArgGluAlaGlnThrLeuGlnGlnTyrArgValGluLeuAlaGluLysHisGlnLysThrLeuGlnLeuLeuArgLysGlnGlnThrIleIleLeuAspAspGluLeuIleGlnTrpLysArgArgGlnGlnLeuAlaGlyAsnGlyGlyProProGluGlySerLeuAspValLeuGlnSerTrpCysGluLysLeuAlaGluIleIleTrpGlnAsnArgGlnGlnIleArgArgAlaGluHisLeuCysGlnGlnLeuProIleProGlyProValGluGluMetLeuAlaGluValAsnAlaThrIleThrAspIleIleSerAlaLeuValThrSerThrPheIleIleGluLysGlnProProGlnValLeuLysThrGlnThrLysPheAlaAlaThrValArgLeuLeuValGlyGlyLysLeuAsnValHisMetAsnProProGlnValLysAlaThrIleIleSerGluGlnGlnAlaLysSerLeuLeuLysAsnGluAsnThrArgAsnAspTyrSerGlyGluIleLeuAsnAsnCysCysValMetGluTyrHisGlnAlaThrGlyThrLeuSerAlaHisPheArgAsnMetSerLeuLysArgIleLysArgSerAspArgArgGlyAlaGluSerValThrGluGluLysPheThrIleLeuPheGluSerGlnPheSerValGlyGlyAsnGluLeuValPheGlnValLysThrLeuSerLeuProValValValIleValHisGlySerGlnAspAsnAsnAlaThrAlaThrValLeuTrpAspAsnAlaPheAlaGluProGlyArgValProPheAlaValProAspLysValLeuTrpProGlnLeuCysGluAlaLeuAsnMetLysPheLysAlaGluValGlnSerAsnArgGlyLeuThrLysGluAsnLeuValPheLeuAlaGlnLysLeuPheAsnAsnSerSerSerHisLeuGluAspTyrSerGlyLeuSerValSerTrpSerGlnPheAsnArgGluAsnLeuProGlyArgAsnTyrThrPheTrpGlnTrpPheAspGlyValMetGluValLeuLysLysHisLeuLysProHisTrpAsnAspGlyAlaIleLeuGlyPheValAsnLysGlnGlnAlaHisAspLeuLeuIleAsnLysProAspGlyThrPheLeuLeuArgPheSerAspSerGluIleGlyGlyIleThrIleAlaTrpLysPheAspSerGlnGluArgMetPheTrpAsnLeuMetProPheThrThrArgAspPheSerIleArgSerLeuAlaAspArgLeuGlyAspLeuAsnTyrLeuIleTyrValPheProAspArgProLysAspGluValTyrSerLysTyrTyrThrProValProCysGluSerAlaThrAlaLysAlaValAspGlyTyrValLysProGlnIleLysGlnValValProGluPheValAsnAlaSerAlaAspAlaGlyGlyGlySerAlaThrTyrMetAspGlnAlaProSerProAlaValCysProGlnAlaHisTyrAsnMetTyrProGlnAsnProAspSerValLeuAspThrAspGlyAspPheAspLeuGluAspThrMetAspValAlaArgArgValGluGluLeuLeuGlyArgProMetAspSerGlnTrpIleProHisAlaGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697075",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293328.8:c.454C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012448.4:c.454C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293328.3:p.Arg152Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036580.2:p.Arg152Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}