{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA806625",
  "communityStandardTitle": [
    "NM_005373.3(MPL):c.268C>T (p.Arg90Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=941951[alleleid]",
        "alleleId": 941951,
        "preferredName": "NM_005373.3(MPL):c.268C>T (p.Arg90Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/956954",
        "RCV": [
          "RCV001229853",
          "RCV001251410"
        ],
        "variationId": 956954
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-43804268-C-T",
        "id": "1-43804268-C-T",
        "variant": "1:43804268 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43804268C>T?assembly=hg19",
        "id": "chr1:g.43804268C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43338597C>T?assembly=hg38",
        "id": "chr1:g.43338597C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763144679",
        "rs": 763144679
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43804268-C-T?dataset=gnomad_r2_1",
        "id": "1-43804268-C-T",
        "variant": "1:43804268 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43338597-C-T?dataset=gnomad_r4",
        "id": "1-43338597-C-T",
        "variant": "1:43338597 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43338597,
          "referenceAllele": "C",
          "start": 43338596
        }
      ],
      "hgvs": [
        "NC_000001.11:g.43338597C>T",
        "CM000663.2:g.43338597C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43804268,
          "referenceAllele": "C",
          "start": 43804267
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43804268C>T",
        "CM000663.1:g.43804268C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43576855,
          "referenceAllele": "C",
          "start": 43576854
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43576855C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5794,
          "referenceAllele": "C",
          "start": 5793
        }
      ],
      "hgvs": [
        "NG_007525.1:g.5794C>T",
        "LRG_510:g.5794C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000633"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000372470.9:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361548.3:p.Arg90Ter",
        "hgvsWellDefined": "ENSP00000361548.3:p.Arg90_Pro635delinsTyrValCysGlnPheProAspGlnGluGluValArgLeuPhePheProLeuHisLeuTrpValLysAsnValPheLeuAsnGlnThrArgThrGlnArgValLeuPheValAspSerValGlyLeuProAlaProProSerIleIleLysAlaMetGlyGlySerGlnProGlyGluLeuGlnIleSerTrpGluGluProAlaProGluIleSerAspPheLeuArgTyrGluLeuArgTyrGlyProArgAspProLysAsnSerThrGlyProThrValIleGlnLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372470.9:c.268C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005373.3:c.268C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361548.3:p.Arg90Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005364.1:p.Arg90Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 247,
          "referenceAllele": "C",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000413998.7:c.247C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414004.3:p.Arg83Ter",
        "hgvsWellDefined": "ENSP00000414004.3:p.Arg83_Pro628delinsTyrValCysGlnPheProAspGlnGluGluValArgLeuPhePheProLeuHisLeuTrpValLysAsnValPheLeuAsnGlnThrArgThrGlnArgValLeuPheValAspSerValGlyLeuProAlaProProSerIleIleLysAlaMetGlyGlySerGlnProGlyGluLeuGlnIleSerTrpGluGluProAlaProGluIleSerAspPheLeuArgTyrGluLeuArgTyrGlyProArgAspProLysAsnSerThrGlyProThrValIleGlnLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 268,
          "referenceAllele": "C",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000638732.1:n.268C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 310,
          "referenceAllele": "C",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000372470.7:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361548.3:p.Arg90Ter",
        "hgvsWellDefined": "ENSP00000361548.3:p.Arg90_Pro635delinsTyrValCysGlnPheProAspGlnGluGluValArgLeuPhePheProLeuHisLeuTrpValLysAsnValPheLeuAsnGlnThrArgThrGlnArgValLeuPheValAspSerValGlyLeuProAlaProProSerIleIleLysAlaMetGlyGlySerGlnProGlyGluLeuGlnIleSerTrpGluGluProAlaProGluIleSerAspPheLeuArgTyrGluLeuArgTyrGlyProArgAspProLysAsnSerThrGlyProThrValIleGlnLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 268,
          "referenceAllele": "C",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000413998.6:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414004.2:p.Arg90Ter",
        "hgvsWellDefined": "ENSP00000414004.2:p.Arg90_Leu549delinsTyrValCysGlnPheProAspGlnGluGluValArgLeuPhePheProLeuHisLeuTrpValLysAsnValPheLeuAsnGlnThrArgThrGlnArgValLeuPheValAspSerValGlyLeuProAlaProProSerIleIleLysAlaMetGlyGlySerGlnProGlyGluLeuGlnIleSerTrpGluGluProAlaProGluIleSerAspPheLeuArgTyrGluLeuArgTyrGlyProArgAspProLysAsnSerThrGlyProThrValIleGlnLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgTyrArgProArgGlnAlaGlyAspTrpArgTrpThrArgTrpSerArgArgProValAsnArgHisSerTrpPheAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 268,
          "referenceAllele": "C",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000612993.1:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480273.1:p.Arg90Ter",
        "hgvsWellDefined": "ENSP00000480273.1:p.Arg90_Leu579delinsTyrValCysGlnPheProAspGlnGluGluValArgLeuPhePheProLeuHisLeuTrpValLysAsnValPheLeuAsnGlnThrArgThrGlnArgValLeuPheValAspSerValGlyLeuProAlaProProSerIleIleLysAlaMetGlyGlySerGlnProGlyGluLeuGlnIleSerTrpGluGluProAlaProGluIleSerAspPheLeuArgTyrGluLeuArgTyrGlyProArgAspProLysAsnSerThrGlyProThrValIleGlnLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgTyrArgProArgGlnAlaGlyAspTrpArgTrpThrArgTrpSerArgArgCysLysGlnAlaPheLeuValArgSerValThrProAspLeuArgProProProValArgThrTyrGlyPheAlaLeuProAlaArgHisLeuTrpAspSerProArgLeuLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139708350",
      "coordinates": [
        {
          "allele": "T",
          "end": 313,
          "referenceAllele": "C",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "NM_005373.2:c.268C>T",
        "LRG_510t1:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005364.1:p.Arg90Ter",
        "hgvsWellDefined": "NP_005364.1:p.Arg90_Pro635delinsTyrValCysGlnPheProAspGlnGluGluValArgLeuPhePheProLeuHisLeuTrpValLysAsnValPheLeuAsnGlnThrArgThrGlnArgValLeuPheValAspSerValGlyLeuProAlaProProSerIleIleLysAlaMetGlyGlySerGlnProGlyGluLeuGlnIleSerTrpGluGluProAlaProGluIleSerAspPheLeuArgTyrGluLeuArgTyrGlyProArgAspProLysAsnSerThrGlyProThrValIleGlnLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "XM_011541478.1:c.247C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539780.1:p.Arg83Ter",
        "hgvsWellDefined": "XP_011539780.1:p.Arg83_Pro628delinsTyrValCysGlnPheProAspGlnGluGluValArgLeuPhePheProLeuHisLeuTrpValLysAsnValPheLeuAsnGlnThrArgThrGlnArgValLeuPheValAspSerValGlyLeuProAlaProProSerIleIleLysAlaMetGlyGlySerGlnProGlyGluLeuGlnIleSerTrpGluGluProAlaProGluIleSerAspPheLeuArgTyrGluLeuArgTyrGlyProArgAspProLysAsnSerThrGlyProThrValIleGlnLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "XM_017001320.1:c.439C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856809.1:p.Arg147Ter",
        "hgvsWellDefined": "XP_016856809.1:p.Arg147_Pro692delinsTyrValCysGlnPheProAspGlnGluGluValArgLeuPhePheProLeuHisLeuTrpValLysAsnValPheLeuAsnGlnThrArgThrGlnArgValLeuPheValAspSerValGlyLeuProAlaProProSerIleIleLysAlaMetGlyGlySerGlnProGlyGluLeuGlnIleSerTrpGluGluProAlaProGluIleSerAspPheLeuArgTyrGluLeuArgTyrGlyProArgAspProLysAsnSerThrGlyProThrValIleGlnLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139708350",
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "NM_005373.3:c.268C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005364.1:p.Arg90Ter",
        "hgvsWellDefined": "NP_005364.1:p.Arg90_Pro635delinsTyrValCysGlnPheProAspGlnGluGluValArgLeuPhePheProLeuHisLeuTrpValLysAsnValPheLeuAsnGlnThrArgThrGlnArgValLeuPheValAspSerValGlyLeuProAlaProProSerIleIleLysAlaMetGlyGlySerGlnProGlyGluLeuGlnIleSerTrpGluGluProAlaProGluIleSerAspPheLeuArgTyrGluLeuArgTyrGlyProArgAspProLysAsnSerThrGlyProThrValIleGlnLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372470.9:c.268C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005373.3:c.268C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361548.3:p.Arg90Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005364.1:p.Arg90Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}