{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123771",
  "communityStandardTitle": [
    "NM_005373.3(MPL):c.556C>T (p.Gln186Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29193[alleleid]",
        "alleleId": 29193,
        "preferredName": "NM_005373.3(MPL):c.556C>T (p.Gln186Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14154",
        "RCV": [
          "RCV000015217"
        ],
        "variationId": 14154
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43805106C>T?assembly=hg19",
        "id": "chr1:g.43805106C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43339435C>T?assembly=hg38",
        "id": "chr1:g.43339435C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913610",
        "rs": 121913610
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43339435-C-T?dataset=gnomad_r4",
        "id": "1-43339435-C-T",
        "variant": "1:43339435 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43339435,
          "referenceAllele": "C",
          "start": 43339434
        }
      ],
      "hgvs": [
        "NC_000001.11:g.43339435C>T",
        "CM000663.2:g.43339435C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43805106,
          "referenceAllele": "C",
          "start": 43805105
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43805106C>T",
        "CM000663.1:g.43805106C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 43577693,
          "referenceAllele": "C",
          "start": 43577692
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43577693C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6632,
          "referenceAllele": "C",
          "start": 6631
        }
      ],
      "hgvs": [
        "NG_007525.1:g.6632C>T",
        "LRG_510:g.6632C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000633"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000372470.9:c.556C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361548.3:p.Gln186Ter",
        "hgvsWellDefined": "ENSP00000361548.3:p.Gln186_Pro635delinsLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372470.9:c.556C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005373.3:c.556C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361548.3:p.Gln186Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005364.1:p.Gln186Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "C",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000413998.7:c.535C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414004.3:p.Gln179Ter",
        "hgvsWellDefined": "ENSP00000414004.3:p.Gln179_Pro628delinsLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000638732.1:n.556C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000372470.7:c.556C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361548.3:p.Gln186Ter",
        "hgvsWellDefined": "ENSP00000361548.3:p.Gln186_Pro635delinsLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000413998.6:c.556C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414004.2:p.Gln186Ter",
        "hgvsWellDefined": "ENSP00000414004.2:p.Gln186_Leu549delinsLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgTyrArgProArgGlnAlaGlyAspTrpArgTrpThrArgTrpSerArgArgProValAsnArgHisSerTrpPheAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000612993.1:c.556C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480273.1:p.Gln186Ter",
        "hgvsWellDefined": "ENSP00000480273.1:p.Gln186_Leu579delinsLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgTyrArgProArgGlnAlaGlyAspTrpArgTrpThrArgTrpSerArgArgCysLysGlnAlaPheLeuValArgSerValThrProAspLeuArgProProProValArgThrTyrGlyPheAlaLeuProAlaArgHisLeuTrpAspSerProArgLeuLeuThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123773",
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "NM_005373.2:c.556C>T",
        "LRG_510t1:c.556C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005364.1:p.Gln186Ter",
        "hgvsWellDefined": "NP_005364.1:p.Gln186_Pro635delinsLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "XM_011541478.1:c.535C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539780.1:p.Gln179Ter",
        "hgvsWellDefined": "XP_011539780.1:p.Gln179_Pro628delinsLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "referenceAllele": "C",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "XM_017001320.1:c.727C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856809.1:p.Gln243Ter",
        "hgvsWellDefined": "XP_016856809.1:p.Gln243_Pro692delinsLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123773",
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "NM_005373.3:c.556C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005364.1:p.Gln186Ter",
        "hgvsWellDefined": "NP_005364.1:p.Gln186_Pro635delinsLeuIleAlaThrGluThrCysCysProAlaLeuGlnArgProHisSerAlaSerAlaLeuAspGlnSerProCysAlaGlnProThrMetProTrpGlnAspGlyProLysGlnThrSerProSerArgGluAlaSerAlaLeuThrAlaGluGlyGlySerCysLeuIleSerGlyLeuGlnProGlyAsnSerTyrTrpLeuGlnLeuArgSerGluProAspGlyIleSerLeuGlyGlySerTrpGlySerTrpSerLeuProValThrValAspLeuProGlyAspAlaValAlaLeuGlyLeuGlnCysPheThrLeuAspLeuLysAsnValThrCysGlnTrpGlnGlnGlnAspHisAlaSerSerGlnGlyPhePheTyrHisSerArgAlaArgCysCysProArgAspArgTyrProIleTrpGluAsnCysGluGluGluGluLysThrAsnProGlyLeuGlnThrProGlnPheSerArgCysHisPheLysSerArgAsnAspSerIleIleHisIleLeuValGluValThrThrAlaProGlyThrValHisSerTyrLeuGlySerProPheTrpIleHisGlnAlaValArgLeuProThrProAsnLeuHisTrpArgGluIleSerSerGlyHisLeuGluLeuGluTrpGlnHisProSerSerTrpAlaAlaGlnGluThrCysTyrGlnLeuArgTyrThrGlyGluGlyHisGlnAspTrpLysValLeuGluProProLeuGlyAlaArgGlyGlyThrLeuGluLeuArgProArgSerArgTyrArgLeuGlnLeuArgAlaArgLeuAsnGlyProThrTyrGlnGlyProTrpSerSerTrpSerAspProThrArgValGluThrAlaThrGluThrAlaTrpIleSerLeuValThrAlaLeuHisLeuValLeuGlyLeuSerAlaValLeuGlyLeuLeuLeuLeuArgTrpGlnPheProAlaHisTyrArgArgLeuArgHisAlaLeuTrpProSerLeuProAspLeuHisArgValLeuGlyGlnTyrLeuArgAspThrAlaAlaLeuSerProProLysAlaThrValSerAspThrCysGluGluValGluProSerLeuLeuGluIleLeuProLysSerSerGluArgThrProLeuProLeuCysSerSerGlnAlaGlnMetAspTyrArgArgLeuGlnProSerCysLeuGlyThrMetProLeuSerValCysProProMetAlaGluSerGlySerCysCysThrThrHisIleAlaAsnHisSerTyrLeuProLeuSerTyrTrpGlnGlnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372470.9:c.556C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005373.3:c.556C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361548.3:p.Gln186Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005364.1:p.Gln186Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}