{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120306",
  "communityStandardTitle": [
    "NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24403[alleleid]",
        "alleleId": 24403,
        "preferredName": "NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9364",
        "RCV": [
          "RCV000009958"
        ],
        "variationId": 9364
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.17950394G>A?assembly=hg19",
        "id": "chr19:g.17950394G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.17839585G>A?assembly=hg38",
        "id": "chr19:g.17839585G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852626",
        "rs": 137852626
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-17950394-G-A?dataset=gnomad_r2_1",
        "id": "19-17950394-G-A",
        "variant": "19:17950394 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-17839585-G-A?dataset=gnomad_r4",
        "id": "19-17839585-G-A",
        "variant": "19:17839585 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 17839585,
          "referenceAllele": "G",
          "start": 17839584
        }
      ],
      "hgvs": [
        "NC_000019.10:g.17839585G>A",
        "CM000681.2:g.17839585G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 17950394,
          "referenceAllele": "G",
          "start": 17950393
        }
      ],
      "hgvs": [
        "NC_000019.9:g.17950394G>A",
        "CM000681.1:g.17950394G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 17811394,
          "referenceAllele": "G",
          "start": 17811393
        }
      ],
      "hgvs": [
        "NC_000019.8:g.17811394G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13407,
          "referenceAllele": "C",
          "start": 13406
        }
      ],
      "hgvs": [
        "NG_007273.1:g.13407C>T",
        "LRG_77:g.13407C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000521"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "ENST00000526008.6:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513006.1:p.Arg445Ter",
        "hgvsWellDefined": "ENSP00000513006.1:p.Arg445_Arg518delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGlyThrAlaArgCysGluProCysHisLeuHisLeuValSerLeuGlnLeuSerAlaLeuProLeuGlyGluPheHisSerTrpThrAsnProSerAspGlyThrIleLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "ENST00000696967.1:n.510C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "ENST00000458235.7:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391676.1:p.Arg445Ter",
        "hgvsWellDefined": "ENSP00000391676.1:p.Arg445_Ser1124delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspSerThrMetValGlnGluPheValHisLeuGlyAlaIleAspMetTyrLeuArgLysArgGlyHisLeuValProAlaSerTrpLysLeuGlnValValLysGlnLeuAlaTyrAlaLeuAsnTyrLeuGluAspLysGlyLeuProHisGlyAsnValSerAlaArgLysValLeuLeuAlaArgGluGlyAlaAspGlySerProProPheIleLysLeuSerAspProGlyValSerProAlaValLeuSerLeuGluMetLeuThrAspArgIleProTrpValAlaProGluCysLeuArgGluAlaGlnThrLeuSerLeuGluAlaAspLysTrpGlyPheGlyAlaThrValTrpGluValPheSerGlyValThrMetProIleSerAlaLeuAspProAlaLysLysLeuGlnPheTyrGluAspArgGlnGlnLeuProAlaProLysTrpThrGluLeuAlaLeuLeuIleGlnGlnCysMetAlaTyrGluProValGlnArgProSerPheArgAlaValIleArgAspLeuAsnSerLeuIleSerSerAspTyrGluLeuLeuSerAspProThrProGlyAlaLeuAlaProArgAspGlyLeuTrpAsnGlyAlaGlnLeuTyrAlaCysGlnAspProThrIlePheGluGluArgHisLeuLysTyrIleSerGlnLeuGlyLysGlyAsnPheGlySerValGluLeuCysArgTyrAspProLeuGlyAspAsnThrGlyAlaLeuValAlaValLysGlnLeuGlnHisSerGlyProAspGlnGlnArgAspPheGlnArgGluIleGlnIleLeuLysAlaLeuHisSerAspPheIleValLysTyrArgGlyValSerTyrGlyProGlyArgGlnSerLeuArgLeuValMetGluTyrLeuProSerGlyCysLeuArgAspPheLeuGlnArgHisArgAlaArgLeuAspAlaSerArgLeuLeuLeuTyrSerSerGlnIleCysLysGlyMetGluTyrLeuGlySerArgArgCysValHisArgAspLeuAlaAlaArgAsnIleLeuValGluSerGluAlaHisValLysIleAlaAspPheGlyLeuAlaLysLeuLeuProLeuAspLysAspTyrTyrValValArgGluProGlyGlnSerProIlePheTrpTyrAlaProGluSerLeuSerAspAsnIlePheSerArgGlnSerAspValTrpSerPheGlyValValLeuTyrGluLeuPheThrTyrCysAspLysSerCysSerProSerAlaGluPheLeuArgMetMetGlyCysGluArgAspValProAlaLeuCysArgLeuLeuGluLeuLeuGluGluGlyGlnArgLeuProAlaProProAlaCysProAlaGluValHisGluLeuMetLysLeuCysTrpAlaProSerProGlnAspArgProSerPheSerAlaLeuGlyProGlnLeuAspMetLeuTrpSerGlySerArgGlyCysGluThrHisAlaPheThrAlaHisProGluGlyLysHisHisSerLeuSerPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000458235.7:c.1333C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000215.4:c.1333C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000391676.1:p.Arg445Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000206.2:p.Arg445Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "ENST00000458235.5:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391676.1:p.Arg445Ter",
        "hgvsWellDefined": "ENSP00000391676.1:p.Arg445_Ser1124delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspSerThrMetValGlnGluPheValHisLeuGlyAlaIleAspMetTyrLeuArgLysArgGlyHisLeuValProAlaSerTrpLysLeuGlnValValLysGlnLeuAlaTyrAlaLeuAsnTyrLeuGluAspLysGlyLeuProHisGlyAsnValSerAlaArgLysValLeuLeuAlaArgGluGlyAlaAspGlySerProProPheIleLysLeuSerAspProGlyValSerProAlaValLeuSerLeuGluMetLeuThrAspArgIleProTrpValAlaProGluCysLeuArgGluAlaGlnThrLeuSerLeuGluAlaAspLysTrpGlyPheGlyAlaThrValTrpGluValPheSerGlyValThrMetProIleSerAlaLeuAspProAlaLysLysLeuGlnPheTyrGluAspArgGlnGlnLeuProAlaProLysTrpThrGluLeuAlaLeuLeuIleGlnGlnCysMetAlaTyrGluProValGlnArgProSerPheArgAlaValIleArgAspLeuAsnSerLeuIleSerSerAspTyrGluLeuLeuSerAspProThrProGlyAlaLeuAlaProArgAspGlyLeuTrpAsnGlyAlaGlnLeuTyrAlaCysGlnAspProThrIlePheGluGluArgHisLeuLysTyrIleSerGlnLeuGlyLysGlyAsnPheGlySerValGluLeuCysArgTyrAspProLeuGlyAspAsnThrGlyAlaLeuValAlaValLysGlnLeuGlnHisSerGlyProAspGlnGlnArgAspPheGlnArgGluIleGlnIleLeuLysAlaLeuHisSerAspPheIleValLysTyrArgGlyValSerTyrGlyProGlyArgGlnSerLeuArgLeuValMetGluTyrLeuProSerGlyCysLeuArgAspPheLeuGlnArgHisArgAlaArgLeuAspAlaSerArgLeuLeuLeuTyrSerSerGlnIleCysLysGlyMetGluTyrLeuGlySerArgArgCysValHisArgAspLeuAlaAlaArgAsnIleLeuValGluSerGluAlaHisValLysIleAlaAspPheGlyLeuAlaLysLeuLeuProLeuAspLysAspTyrTyrValValArgGluProGlyGlnSerProIlePheTrpTyrAlaProGluSerLeuSerAspAsnIlePheSerArgGlnSerAspValTrpSerPheGlyValValLeuTyrGluLeuPheThrTyrCysAspLysSerCysSerProSerAlaGluPheLeuArgMetMetGlyCysGluArgAspValProAlaLeuCysArgLeuLeuGluLeuLeuGluGluGlyGlnArgLeuProAlaProProAlaCysProAlaGluValHisGluLeuMetLysLeuCysTrpAlaProSerProGlnAspArgProSerPheSerAlaLeuGlyProGlnLeuAspMetLeuTrpSerGlySerArgGlyCysGluThrHisAlaPheThrAlaHisProGluGlyLysHisHisSerLeuSerPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "ENST00000526008.5:n.1433C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "ENST00000527031.5:n.1423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "ENST00000527670.5:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432511.1:p.Arg445Ter",
        "hgvsWellDefined": "ENSP00000432511.1:p.Arg445_Ser1124delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspSerThrMetValGlnGluPheValHisLeuGlyAlaIleAspMetTyrLeuArgLysArgGlyHisLeuValProAlaSerTrpLysLeuGlnValValLysGlnLeuAlaTyrAlaLeuAsnTyrLeuGluAspLysGlyLeuProHisGlyAsnValSerAlaArgLysValLeuLeuAlaArgGluGlyAlaAspGlySerProProPheIleLysLeuSerAspProGlyValSerProAlaValLeuSerLeuGluMetLeuThrAspArgIleProTrpValAlaProGluCysLeuArgGluAlaGlnThrLeuSerLeuGluAlaAspLysTrpGlyPheGlyAlaThrValTrpGluValPheSerGlyValThrMetProIleSerAlaLeuAspProAlaLysLysLeuGlnPheTyrGluAspArgGlnGlnLeuProAlaProLysTrpThrGluLeuAlaLeuLeuIleGlnGlnCysMetAlaTyrGluProValGlnArgProSerPheArgAlaValIleArgAspLeuAsnSerLeuIleSerSerAspTyrGluLeuLeuSerAspProThrProGlyAlaLeuAlaProArgAspGlyLeuTrpAsnGlyAlaGlnLeuTyrAlaCysGlnAspProThrIlePheGluGluArgHisLeuLysTyrIleSerGlnLeuGlyLysGlyAsnPheGlySerValGluLeuCysArgTyrAspProLeuGlyAspAsnThrGlyAlaLeuValAlaValLysGlnLeuGlnHisSerGlyProAspGlnGlnArgAspPheGlnArgGluIleGlnIleLeuLysAlaLeuHisSerAspPheIleValLysTyrArgGlyValSerTyrGlyProGlyArgGlnSerLeuArgLeuValMetGluTyrLeuProSerGlyCysLeuArgAspPheLeuGlnArgHisArgAlaArgLeuAspAlaSerArgLeuLeuLeuTyrSerSerGlnIleCysLysGlyMetGluTyrLeuGlySerArgArgCysValHisArgAspLeuAlaAlaArgAsnIleLeuValGluSerGluAlaHisValLysIleAlaAspPheGlyLeuAlaLysLeuLeuProLeuAspLysAspTyrTyrValValArgGluProGlyGlnSerProIlePheTrpTyrAlaProGluSerLeuSerAspAsnIlePheSerArgGlnSerAspValTrpSerPheGlyValValLeuTyrGluLeuPheThrTyrCysAspLysSerCysSerProSerAlaGluPheLeuArgMetMetGlyCysGluArgAspValProAlaLeuCysArgLeuLeuGluLeuLeuGluGluGlyGlnArgLeuProAlaProProAlaCysProAlaGluValHisGluLeuMetLysLeuCysTrpAlaProSerProGlnAspArgProSerPheSerAlaLeuGlyProGlnLeuAspMetLeuTrpSerGlySerArgGlyCysGluThrHisAlaPheThrAlaHisProGluGlyLysHisHisSerLeuSerPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "ENST00000528705.1:n.682C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "ENST00000534444.1:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436421.1:p.Arg445Ter",
        "hgvsWellDefined": "ENSP00000436421.1:p.Arg445_Ala1094delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspSerThrMetValGlnGluPheValHisLeuGlyAlaIleAspMetTyrLeuArgLysArgGlyHisLeuValProAlaSerTrpLysLeuGlnValValLysGlnLeuAlaTyrAlaLeuAsnTyrLeuGluAspLysGlyLeuProHisGlyAsnValSerAlaArgLysValLeuLeuAlaArgGluGlyAlaAspGlySerProProPheIleLysLeuSerAspProGlyValSerProAlaValLeuSerLeuGluMetLeuThrAspArgIleProTrpValAlaProGluCysLeuArgGluAlaGlnThrLeuSerLeuGluAlaAspLysTrpGlyPheGlyAlaThrValTrpGluValPheSerGlyValThrMetProIleSerAlaLeuAspProAlaLysLysLeuGlnPheTyrGluAspArgGlnGlnLeuProAlaProLysTrpThrGluLeuAlaLeuLeuIleGlnGlnCysMetAlaTyrGluProValGlnArgProSerPheArgAlaValIleArgAspLeuAsnSerLeuIleSerSerAspTyrGluLeuLeuSerAspProThrProGlyAlaLeuAlaProArgAspGlyLeuTrpAsnGlyAlaGlnLeuTyrAlaCysGlnAspProThrIlePheGluGluArgHisLeuLysTyrIleSerGlnLeuGlyLysGlyAsnPheGlySerValGluLeuCysArgTyrAspProLeuGlyAspAsnThrGlyAlaLeuValAlaValLysGlnLeuGlnHisSerGlyProAspGlnGlnArgAspPheGlnArgGluIleGlnIleLeuLysAlaLeuHisSerAspPheIleValLysTyrArgGlyValSerTyrGlyProGlyArgGlnSerLeuArgLeuValMetGluTyrLeuProSerGlyCysLeuArgAspPheLeuGlnArgHisArgAlaArgLeuAspAlaSerArgLeuLeuLeuTyrSerSerGlnIleCysLysGlyMetGluTyrLeuGlySerArgArgCysValHisArgAspLeuAlaAlaArgAsnIleLeuValGluSerGluAlaHisValLysIleAlaAspPheGlyLeuAlaLysLeuLeuProLeuAspLysAspTyrTyrValValArgGluProGlyGlnSerProIlePheTrpTyrAlaProGluSerLeuSerAspAsnIlePheSerArgGlnSerAspValTrpSerPheGlyValValLeuTyrGluLeuPheThrTyrCysAspLysSerCysSerProSerAlaGluPheLeuArgMetMetGlyCysGluArgAspValProAlaLeuCysArgLeuLeuGluLeuLeuGluGluGlyGlnArgLeuProAlaProProAlaCysProAlaGluValSerAlaAlaGlyLeuAlaSerValSerGlnSerValAspTrpAlaGlyValSerGlyLysProAlaGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120308",
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "NM_000215.3:c.1333C>T",
        "LRG_77t1:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000206.2:p.Arg445Ter",
        "hgvsWellDefined": "NP_000206.2:p.Arg445_Ser1124delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspSerThrMetValGlnGluPheValHisLeuGlyAlaIleAspMetTyrLeuArgLysArgGlyHisLeuValProAlaSerTrpLysLeuGlnValValLysGlnLeuAlaTyrAlaLeuAsnTyrLeuGluAspLysGlyLeuProHisGlyAsnValSerAlaArgLysValLeuLeuAlaArgGluGlyAlaAspGlySerProProPheIleLysLeuSerAspProGlyValSerProAlaValLeuSerLeuGluMetLeuThrAspArgIleProTrpValAlaProGluCysLeuArgGluAlaGlnThrLeuSerLeuGluAlaAspLysTrpGlyPheGlyAlaThrValTrpGluValPheSerGlyValThrMetProIleSerAlaLeuAspProAlaLysLysLeuGlnPheTyrGluAspArgGlnGlnLeuProAlaProLysTrpThrGluLeuAlaLeuLeuIleGlnGlnCysMetAlaTyrGluProValGlnArgProSerPheArgAlaValIleArgAspLeuAsnSerLeuIleSerSerAspTyrGluLeuLeuSerAspProThrProGlyAlaLeuAlaProArgAspGlyLeuTrpAsnGlyAlaGlnLeuTyrAlaCysGlnAspProThrIlePheGluGluArgHisLeuLysTyrIleSerGlnLeuGlyLysGlyAsnPheGlySerValGluLeuCysArgTyrAspProLeuGlyAspAsnThrGlyAlaLeuValAlaValLysGlnLeuGlnHisSerGlyProAspGlnGlnArgAspPheGlnArgGluIleGlnIleLeuLysAlaLeuHisSerAspPheIleValLysTyrArgGlyValSerTyrGlyProGlyArgGlnSerLeuArgLeuValMetGluTyrLeuProSerGlyCysLeuArgAspPheLeuGlnArgHisArgAlaArgLeuAspAlaSerArgLeuLeuLeuTyrSerSerGlnIleCysLysGlyMetGluTyrLeuGlySerArgArgCysValHisArgAspLeuAlaAlaArgAsnIleLeuValGluSerGluAlaHisValLysIleAlaAspPheGlyLeuAlaLysLeuLeuProLeuAspLysAspTyrTyrValValArgGluProGlyGlnSerProIlePheTrpTyrAlaProGluSerLeuSerAspAsnIlePheSerArgGlnSerAspValTrpSerPheGlyValValLeuTyrGluLeuPheThrTyrCysAspLysSerCysSerProSerAlaGluPheLeuArgMetMetGlyCysGluArgAspValProAlaLeuCysArgLeuLeuGluLeuLeuGluGluGlyGlnArgLeuProAlaProProAlaCysProAlaGluValHisGluLeuMetLysLeuCysTrpAlaProSerProGlnAspArgProSerPheSerAlaLeuGlyProGlnLeuAspMetLeuTrpSerGlySerArgGlyCysGluThrHisAlaPheThrAlaHisProGluGlyLysHisHisSerLeuSerPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "XM_005259896.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259953.1:p.Arg488Ter",
        "hgvsWellDefined": "XP_005259953.1:p.Arg488_Ser1167delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspSerThrMetValGlnGluPheValHisLeuGlyAlaIleAspMetTyrLeuArgLysArgGlyHisLeuValProAlaSerTrpLysLeuGlnValValLysGlnLeuAlaTyrAlaLeuAsnTyrLeuGluAspLysGlyLeuProHisGlyAsnValSerAlaArgLysValLeuLeuAlaArgGluGlyAlaAspGlySerProProPheIleLysLeuSerAspProGlyValSerProAlaValLeuSerLeuGluMetLeuThrAspArgIleProTrpValAlaProGluCysLeuArgGluAlaGlnThrLeuSerLeuGluAlaAspLysTrpGlyPheGlyAlaThrValTrpGluValPheSerGlyValThrMetProIleSerAlaLeuAspProAlaLysLysLeuGlnPheTyrGluAspArgGlnGlnLeuProAlaProLysTrpThrGluLeuAlaLeuLeuIleGlnGlnCysMetAlaTyrGluProValGlnArgProSerPheArgAlaValIleArgAspLeuAsnSerLeuIleSerSerAspTyrGluLeuLeuSerAspProThrProGlyAlaLeuAlaProArgAspGlyLeuTrpAsnGlyAlaGlnLeuTyrAlaCysGlnAspProThrIlePheGluGluArgHisLeuLysTyrIleSerGlnLeuGlyLysGlyAsnPheGlySerValGluLeuCysArgTyrAspProLeuGlyAspAsnThrGlyAlaLeuValAlaValLysGlnLeuGlnHisSerGlyProAspGlnGlnArgAspPheGlnArgGluIleGlnIleLeuLysAlaLeuHisSerAspPheIleValLysTyrArgGlyValSerTyrGlyProGlyArgGlnSerLeuArgLeuValMetGluTyrLeuProSerGlyCysLeuArgAspPheLeuGlnArgHisArgAlaArgLeuAspAlaSerArgLeuLeuLeuTyrSerSerGlnIleCysLysGlyMetGluTyrLeuGlySerArgArgCysValHisArgAspLeuAlaAlaArgAsnIleLeuValGluSerGluAlaHisValLysIleAlaAspPheGlyLeuAlaLysLeuLeuProLeuAspLysAspTyrTyrValValArgGluProGlyGlnSerProIlePheTrpTyrAlaProGluSerLeuSerAspAsnIlePheSerArgGlnSerAspValTrpSerPheGlyValValLeuTyrGluLeuPheThrTyrCysAspLysSerCysSerProSerAlaGluPheLeuArgMetMetGlyCysGluArgAspValProAlaLeuCysArgLeuLeuGluLeuLeuGluGluGlyGlnArgLeuProAlaProProAlaCysProAlaGluValHisGluLeuMetLysLeuCysTrpAlaProSerProGlnAspArgProSerPheSerAlaLeuGlyProGlnLeuAspMetLeuTrpSerGlySerArgGlyCysGluThrHisAlaPheThrAlaHisProGluGlyLysHisHisSerLeuSerPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1454,
          "referenceAllele": "C",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "XM_006722745.2:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722808.1:p.Arg445Ter",
        "hgvsWellDefined": "XP_006722808.1:p.Arg445_Ser1124delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspSerThrMetValGlnGluPheValHisLeuGlyAlaIleAspMetTyrLeuArgLysArgGlyHisLeuValProAlaSerTrpLysLeuGlnValValLysGlnLeuAlaTyrAlaLeuAsnTyrLeuGluAspLysGlyLeuProHisGlyAsnValSerAlaArgLysValLeuLeuAlaArgGluGlyAlaAspGlySerProProPheIleLysLeuSerAspProGlyValSerProAlaValLeuSerLeuGluMetLeuThrAspArgIleProTrpValAlaProGluCysLeuArgGluAlaGlnThrLeuSerLeuGluAlaAspLysTrpGlyPheGlyAlaThrValTrpGluValPheSerGlyValThrMetProIleSerAlaLeuAspProAlaLysLysLeuGlnPheTyrGluAspArgGlnGlnLeuProAlaProLysTrpThrGluLeuAlaLeuLeuIleGlnGlnCysMetAlaTyrGluProValGlnArgProSerPheArgAlaValIleArgAspLeuAsnSerLeuIleSerSerAspTyrGluLeuLeuSerAspProThrProGlyAlaLeuAlaProArgAspGlyLeuTrpAsnGlyAlaGlnLeuTyrAlaCysGlnAspProThrIlePheGluGluArgHisLeuLysTyrIleSerGlnLeuGlyLysGlyAsnPheGlySerValGluLeuCysArgTyrAspProLeuGlyAspAsnThrGlyAlaLeuValAlaValLysGlnLeuGlnHisSerGlyProAspGlnGlnArgAspPheGlnArgGluIleGlnIleLeuLysAlaLeuHisSerAspPheIleValLysTyrArgGlyValSerTyrGlyProGlyArgGlnSerLeuArgLeuValMetGluTyrLeuProSerGlyCysLeuArgAspPheLeuGlnArgHisArgAlaArgLeuAspAlaSerArgLeuLeuLeuTyrSerSerGlnIleCysLysGlyMetGluTyrLeuGlySerArgArgCysValHisArgAspLeuAlaAlaArgAsnIleLeuValGluSerGluAlaHisValLysIleAlaAspPheGlyLeuAlaLysLeuLeuProLeuAspLysAspTyrTyrValValArgGluProGlyGlnSerProIlePheTrpTyrAlaProGluSerLeuSerAspAsnIlePheSerArgGlnSerAspValTrpSerPheGlyValValLeuTyrGluLeuPheThrTyrCysAspLysSerCysSerProSerAlaGluPheLeuArgMetMetGlyCysGluArgAspValProAlaLeuCysArgLeuLeuGluLeuLeuGluGluGlyGlnArgLeuProAlaProProAlaCysProAlaGluValHisGluLeuMetLysLeuCysTrpAlaProSerProGlnAspArgProSerPheSerAlaLeuGlyProGlnLeuAspMetLeuTrpSerGlySerArgGlyCysGluThrHisAlaPheThrAlaHisProGluGlyLysHisHisSerLeuSerPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "XM_011527990.1:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526292.1:p.Arg488Ter",
        "hgvsWellDefined": "XP_011526292.1:p.Arg488_Pro866delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspSerThrMetValGlnGluPheValHisLeuGlyAlaIleAspMetTyrLeuArgLysArgGlyHisLeuValProAlaSerTrpLysLeuGlnValValLysGlnLeuAlaTyrAlaLeuAsnTyrLeuGluAspLysGlyLeuProHisGlyAsnValSerAlaArgLysValLeuLeuAlaArgGluGlyAlaAspGlySerProProPheIleLysLeuSerAspProGlyValSerProAlaValLeuSerLeuGluMetLeuThrAspArgIleProTrpValAlaProGluCysLeuArgGluAlaGlnThrLeuSerLeuGluAlaAspLysTrpGlyPheGlyAlaThrValTrpGluValPheSerGlyValThrMetProIleSerAlaLeuAspProAlaLysLysLeuGlnPheTyrGluAspArgGlnGlnLeuProAlaProLysTrpThrGluLeuAlaLeuLeuIleGlnGlnCysMetAlaTyrGluProValGlnArgProSerPheArgAlaValIleArgAspLeuAsnSerLeuIleSerSerAlaMetTrpSerCysThrGlyCysAlaLeuHisGluGluAlaSerPheAlaTrpAspArgValGlyAspThrPhePheGlnSerProGlnGlyThrLeuTrpLeuAlaMetAlaLeuProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "XM_011527991.1:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526293.1:p.Arg488Ter",
        "hgvsWellDefined": "XP_011526293.1:p.Arg488_Glu650delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspThrAlaProGlySerHisProTyrProAlaProGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "XR_430137.2:n.1472C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "XM_005259896.3:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259953.1:p.Arg488Ter",
        "hgvsWellDefined": "XP_005259953.1:p.Arg488_Ser1167delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspSerThrMetValGlnGluPheValHisLeuGlyAlaIleAspMetTyrLeuArgLysArgGlyHisLeuValProAlaSerTrpLysLeuGlnValValLysGlnLeuAlaTyrAlaLeuAsnTyrLeuGluAspLysGlyLeuProHisGlyAsnValSerAlaArgLysValLeuLeuAlaArgGluGlyAlaAspGlySerProProPheIleLysLeuSerAspProGlyValSerProAlaValLeuSerLeuGluMetLeuThrAspArgIleProTrpValAlaProGluCysLeuArgGluAlaGlnThrLeuSerLeuGluAlaAspLysTrpGlyPheGlyAlaThrValTrpGluValPheSerGlyValThrMetProIleSerAlaLeuAspProAlaLysLysLeuGlnPheTyrGluAspArgGlnGlnLeuProAlaProLysTrpThrGluLeuAlaLeuLeuIleGlnGlnCysMetAlaTyrGluProValGlnArgProSerPheArgAlaValIleArgAspLeuAsnSerLeuIleSerSerAspTyrGluLeuLeuSerAspProThrProGlyAlaLeuAlaProArgAspGlyLeuTrpAsnGlyAlaGlnLeuTyrAlaCysGlnAspProThrIlePheGluGluArgHisLeuLysTyrIleSerGlnLeuGlyLysGlyAsnPheGlySerValGluLeuCysArgTyrAspProLeuGlyAspAsnThrGlyAlaLeuValAlaValLysGlnLeuGlnHisSerGlyProAspGlnGlnArgAspPheGlnArgGluIleGlnIleLeuLysAlaLeuHisSerAspPheIleValLysTyrArgGlyValSerTyrGlyProGlyArgGlnSerLeuArgLeuValMetGluTyrLeuProSerGlyCysLeuArgAspPheLeuGlnArgHisArgAlaArgLeuAspAlaSerArgLeuLeuLeuTyrSerSerGlnIleCysLysGlyMetGluTyrLeuGlySerArgArgCysValHisArgAspLeuAlaAlaArgAsnIleLeuValGluSerGluAlaHisValLysIleAlaAspPheGlyLeuAlaLysLeuLeuProLeuAspLysAspTyrTyrValValArgGluProGlyGlnSerProIlePheTrpTyrAlaProGluSerLeuSerAspAsnIlePheSerArgGlnSerAspValTrpSerPheGlyValValLeuTyrGluLeuPheThrTyrCysAspLysSerCysSerProSerAlaGluPheLeuArgMetMetGlyCysGluArgAspValProAlaLeuCysArgLeuLeuGluLeuLeuGluGluGlyGlnArgLeuProAlaProProAlaCysProAlaGluValHisGluLeuMetLysLeuCysTrpAlaProSerProGlnAspArgProSerPheSerAlaLeuGlyProGlnLeuAspMetLeuTrpSerGlySerArgGlyCysGluThrHisAlaPheThrAlaHisProGluGlyLysHisHisSerLeuSerPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "XM_011527991.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526293.1:p.Arg488Ter",
        "hgvsWellDefined": "XP_011526293.1:p.Arg488_Glu650delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspThrAlaProGlySerHisProTyrProAlaProGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548927"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120308",
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "NM_000215.4:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000206.2:p.Arg445Ter",
        "hgvsWellDefined": "NP_000206.2:p.Arg445_Ser1124delinsProHisSerSerLeuArgGluLeuLeuAlaThrCysTrpAspGlyGlyLeuHisValAspGlyValAlaValThrLeuThrSerCysCysIleProArgProLysGluLysSerAsnLeuIleValValGlnArgGlyHisSerProProThrSerSerLeuValGlnProGlnSerGlnTyrGlnLeuSerGlnMetThrPheHisLysIleProAlaAspSerLeuGluTrpHisGluAsnLeuGlyHisGlySerPheThrLysIleTyrArgGlyCysArgHisGluValValAspGlyGluAlaArgLysThrGluValLeuLeuLysValMetAspAlaLysHisLysAsnCysMetGluSerPheLeuGluAlaAlaSerLeuMetSerGlnValSerTyrArgHisLeuValLeuLeuHisGlyValCysMetAlaGlyAspSerThrMetValGlnGluPheValHisLeuGlyAlaIleAspMetTyrLeuArgLysArgGlyHisLeuValProAlaSerTrpLysLeuGlnValValLysGlnLeuAlaTyrAlaLeuAsnTyrLeuGluAspLysGlyLeuProHisGlyAsnValSerAlaArgLysValLeuLeuAlaArgGluGlyAlaAspGlySerProProPheIleLysLeuSerAspProGlyValSerProAlaValLeuSerLeuGluMetLeuThrAspArgIleProTrpValAlaProGluCysLeuArgGluAlaGlnThrLeuSerLeuGluAlaAspLysTrpGlyPheGlyAlaThrValTrpGluValPheSerGlyValThrMetProIleSerAlaLeuAspProAlaLysLysLeuGlnPheTyrGluAspArgGlnGlnLeuProAlaProLysTrpThrGluLeuAlaLeuLeuIleGlnGlnCysMetAlaTyrGluProValGlnArgProSerPheArgAlaValIleArgAspLeuAsnSerLeuIleSerSerAspTyrGluLeuLeuSerAspProThrProGlyAlaLeuAlaProArgAspGlyLeuTrpAsnGlyAlaGlnLeuTyrAlaCysGlnAspProThrIlePheGluGluArgHisLeuLysTyrIleSerGlnLeuGlyLysGlyAsnPheGlySerValGluLeuCysArgTyrAspProLeuGlyAspAsnThrGlyAlaLeuValAlaValLysGlnLeuGlnHisSerGlyProAspGlnGlnArgAspPheGlnArgGluIleGlnIleLeuLysAlaLeuHisSerAspPheIleValLysTyrArgGlyValSerTyrGlyProGlyArgGlnSerLeuArgLeuValMetGluTyrLeuProSerGlyCysLeuArgAspPheLeuGlnArgHisArgAlaArgLeuAspAlaSerArgLeuLeuLeuTyrSerSerGlnIleCysLysGlyMetGluTyrLeuGlySerArgArgCysValHisArgAspLeuAlaAlaArgAsnIleLeuValGluSerGluAlaHisValLysIleAlaAspPheGlyLeuAlaLysLeuLeuProLeuAspLysAspTyrTyrValValArgGluProGlyGlnSerProIlePheTrpTyrAlaProGluSerLeuSerAspAsnIlePheSerArgGlnSerAspValTrpSerPheGlyValValLeuTyrGluLeuPheThrTyrCysAspLysSerCysSerProSerAlaGluPheLeuArgMetMetGlyCysGluArgAspValProAlaLeuCysArgLeuLeuGluLeuLeuGluGluGlyGlnArgLeuProAlaProProAlaCysProAlaGluValHisGluLeuMetLysLeuCysTrpAlaProSerProGlnAspArgProSerPheSerAlaLeuGlyProGlnLeuAspMetLeuTrpSerGlySerArgGlyCysGluThrHisAlaPheThrAlaHisProGluGlyLysHisHisSerLeuSerPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674747",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000458235.7:c.1333C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000215.4:c.1333C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000391676.1:p.Arg445Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000206.2:p.Arg445Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}