{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA128022",
  "communityStandardTitle": [
    "NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM423522"
      },
      {
        "active": false,
        "id": "COSM1472446"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33310[alleleid]",
        "alleleId": 33310,
        "preferredName": "NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18271",
        "RCV": [
          "RCV000019933",
          "RCV000487355",
          "RCV003226164",
          "RCV003974848"
        ],
        "variationId": 18271
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-115236057-G-A",
        "id": "1-115236057-G-A",
        "variant": "1:115236057 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.115236057G>A?assembly=hg19",
        "id": "chr1:g.115236057G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.114693436G>A?assembly=hg38",
        "id": "chr1:g.114693436G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17602729",
        "rs": 17602729
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    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115236057-G-A?dataset=gnomad_r2_1",
        "id": "1-115236057-G-A",
        "variant": "1:115236057 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-114693436-G-A?dataset=gnomad_r3",
        "id": "1-114693436-G-A",
        "variant": "1:114693436 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-114693436-G-A?dataset=gnomad_r4",
        "id": "1-114693436-G-A",
        "variant": "1:114693436 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 114693436,
          "referenceAllele": "G",
          "start": 114693435
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      ],
      "hgvs": [
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        "CM000663.2:g.114693436G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 115236057,
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          "start": 115236056
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      ],
      "hgvs": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 115037580,
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 7119
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      "hgvs": [
        "NG_008012.1:g.7120C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000772"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "+",
          "endIntronOffset": 2014,
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          "startIntronDirection": "+",
          "startIntronOffset": 2013
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      ],
      "gene": "http://reg.genome.network/gene/GN000468",
      "geneNCBI_id": 270,
      "geneSymbol": "AMPD1",
      "hgvs": [
        "ENST00000369538.4:c.22+2014C>T"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS824222"
    },
    {
      "coordinates": [
        {
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      "geneNCBI_id": 270,
      "geneSymbol": "AMPD1",
      "hgvs": [
        "ENST00000520113.7:c.34C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000430075.3:p.Gln12_Glu747delinsIleAspAspAlaMetArgAsnPheAlaGluLysValPheAlaSerGluValLysAspGluGlyGlyArgGlnGluIleSerProPheAspValAspGluIleCysProIleSerHisHisGluMetGlnAlaHisIlePheHisLeuGluThrLeuSerThrSerThrGluAlaArgArgLysLysArgPheGlnGlyArgLysThrValAsnLeuSerIleProLeuSerGluThrSerSerThrLysLeuSerHisIleAspGluTyrIleSerSerSerProThrTyrGlnThrValProAspPheGlnArgValGlnIleThrGlyAspTyrAlaSerGlyValThrValGluAspPheGluIleValCysLysGlyLeuTyrArgAlaLeuCysIleArgGluLysTyrMetGlnLysSerPheGlnArgPheProLysThrProSerLysTyrLeuArgAsnIleAspGlyGluAlaTrpValAlaAsnGluSerPheTyrProValPheThrProProValLysLysGlyGluAspProPheArgThrAspAsnLeuProGluAsnLeuGlyTyrHisLeuLysMetLysAspGlyValValTyrValTyrProAsnGluAlaAlaValSerLysAspGluProLysProLeuProTyrProAsnLeuAspThrPheLeuAspAspMetAsnPheLeuLeuAlaLeuIleAlaGlnGlyProValLysThrTyrThrHisArgArgLeuLysPheLeuSerSerLysPheGlnValHisGlnMetLeuAsnGluMetAspGluLeuLysGluLeuLysAsnAsnProHisArgAspPheTyrAsnCysArgLysValAspThrHisIleHisAlaAlaAlaCysMetAsnGlnLysHisLeuLeuArgPheIleLysLysSerTyrGlnIleAspAlaAspArgValValTyrSerThrLysGluLysAsnLeuThrLeuLysGluLeuPheAlaLysLeuLysMetHisProTyrAspLeuThrValAspSerLeuAspValHisAlaGlyArgGlnThrPheGlnArgPheAspLysPheAsnAspLysTyrAsnProValGlyAlaSerGluLeuArgAspLeuTyrLeuLysThrAspAsnTyrIleAsnGlyGluTyrPheAlaThrIleIleLysGluValGlyAlaAspLeuValGluAlaLysTyrGlnHisAlaGluProArgLeuSerIleTyrGlyArgSerProAspGluTrpSerLysLeuSerSerTrpPheValCysAsnArgIleHisCysProAsnMetThrTrpMetIleGlnValProArgIleTyrAspValPheArgSerLysAsnPheLeuProHisPheGlyLysMetLeuGluAsnIlePheMetProValPheGluAlaThrIleAsnProGlnAlaAspProGluLeuSerValPheLeuLysHisIleThrGlyPheAspSerValAspAspGluSerLysHisSerGlyHisMetPheSerSerLysSerProLysProGlnGluTrpThrLeuGluLysAsnProSerTyrThrTyrTyrAlaTyrTyrMetTyrAlaAsnIleMetValLeuAsnSerLeuArgLysGluArgGlyMetAsnThrPheLeuPheArgProHisCysGlyGluAlaGlyAlaLeuThrHisLeuMetThrAlaPheMetIleAlaAspAspIleSerHisGlyLeuAsnLeuLysLysSerProValLeuGlnTyrLeuPhePheLeuAlaGlnIleProIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuGluTyrAlaLysAsnProPheLeuAspPheLeuGlnLysGlyLeuMetIleSerLeuSerThrAspAspProMetGlnPheHisPheThrLysGluProLeuMetGluGluTyrAlaIleAlaAlaGlnValPheLysLeuSerThrCysAspMetCysGluValAlaArgAsnSerValLeuGlnCysGlyIleSerHisGluGluLysValLysPheLeuGlyAspAsnTyrLeuGluGluGlyProAlaGlyAsnAspIleArgArgThrAsnValAlaGlnIleArgMetAlaTyrArgTyrGluThrTrpCysTyrGluLeuAsnLeuIleAlaGluGlyLeuLysSerThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000520113.7:c.34C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000036.3:c.34C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000430075.3:p.Gln12Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000027.3:p.Gln12Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "endIntronDirection": "+",
          "endIntronOffset": 2001,
          "referenceAllele": "C",
          "start": 37,
          "startIntronDirection": "+",
          "startIntronOffset": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000468",
      "geneNCBI_id": 270,
      "geneSymbol": "AMPD1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489753.1:n.37+2001C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "+",
          "endIntronOffset": 2014,
          "referenceAllele": "C",
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          "startIntronDirection": "+",
          "startIntronOffset": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000468",
      "geneNCBI_id": 270,
      "geneSymbol": "AMPD1",
      "hgvs": [
        "ENST00000369538.3:c.121+2014C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358551.3:n.121+2014C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS267569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000468",
      "geneNCBI_id": 270,
      "geneSymbol": "AMPD1",
      "hgvs": [
        "ENST00000520113.6:c.133C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000430075.2:p.Gln45_Glu780delinsIleAspAspAlaMetArgAsnPheAlaGluLysValPheAlaSerGluValLysAspGluGlyGlyArgGlnGluIleSerProPheAspValAspGluIleCysProIleSerHisHisGluMetGlnAlaHisIlePheHisLeuGluThrLeuSerThrSerThrGluAlaArgArgLysLysArgPheGlnGlyArgLysThrValAsnLeuSerIleProLeuSerGluThrSerSerThrLysLeuSerHisIleAspGluTyrIleSerSerSerProThrTyrGlnThrValProAspPheGlnArgValGlnIleThrGlyAspTyrAlaSerGlyValThrValGluAspPheGluIleValCysLysGlyLeuTyrArgAlaLeuCysIleArgGluLysTyrMetGlnLysSerPheGlnArgPheProLysThrProSerLysTyrLeuArgAsnIleAspGlyGluAlaTrpValAlaAsnGluSerPheTyrProValPheThrProProValLysLysGlyGluAspProPheArgThrAspAsnLeuProGluAsnLeuGlyTyrHisLeuLysMetLysAspGlyValValTyrValTyrProAsnGluAlaAlaValSerLysAspGluProLysProLeuProTyrProAsnLeuAspThrPheLeuAspAspMetAsnPheLeuLeuAlaLeuIleAlaGlnGlyProValLysThrTyrThrHisArgArgLeuLysPheLeuSerSerLysPheGlnValHisGlnMetLeuAsnGluMetAspGluLeuLysGluLeuLysAsnAsnProHisArgAspPheTyrAsnCysArgLysValAspThrHisIleHisAlaAlaAlaCysMetAsnGlnLysHisLeuLeuArgPheIleLysLysSerTyrGlnIleAspAlaAspArgValValTyrSerThrLysGluLysAsnLeuThrLeuLysGluLeuPheAlaLysLeuLysMetHisProTyrAspLeuThrValAspSerLeuAspValHisAlaGlyArgGlnThrPheGlnArgPheAspLysPheAsnAspLysTyrAsnProValGlyAlaSerGluLeuArgAspLeuTyrLeuLysThrAspAsnTyrIleAsnGlyGluTyrPheAlaThrIleIleLysGluValGlyAlaAspLeuValGluAlaLysTyrGlnHisAlaGluProArgLeuSerIleTyrGlyArgSerProAspGluTrpSerLysLeuSerSerTrpPheValCysAsnArgIleHisCysProAsnMetThrTrpMetIleGlnValProArgIleTyrAspValPheArgSerLysAsnPheLeuProHisPheGlyLysMetLeuGluAsnIlePheMetProValPheGluAlaThrIleAsnProGlnAlaAspProGluLeuSerValPheLeuLysHisIleThrGlyPheAspSerValAspAspGluSerLysHisSerGlyHisMetPheSerSerLysSerProLysProGlnGluTrpThrLeuGluLysAsnProSerTyrThrTyrTyrAlaTyrTyrMetTyrAlaAsnIleMetValLeuAsnSerLeuArgLysGluArgGlyMetAsnThrPheLeuPheArgProHisCysGlyGluAlaGlyAlaLeuThrHisLeuMetThrAlaPheMetIleAlaAspAspIleSerHisGlyLeuAsnLeuLysLysSerProValLeuGlnTyrLeuPhePheLeuAlaGlnIleProIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuGluTyrAlaLysAsnProPheLeuAspPheLeuGlnLysGlyLeuMetIleSerLeuSerThrAspAspProMetGlnPheHisPheThrLysGluProLeuMetGluGluTyrAlaIleAlaAlaGlnValPheLysLeuSerThrCysAspMetCysGluValAlaArgAsnSerValLeuGlnCysGlyIleSerHisGluGluLysValLysPheLeuGlyAspAsnTyrLeuGluGluGlyProAlaGlyAsnAspIleArgArgThrAsnValAlaGlnIleArgMetAlaTyrArgTyrGluThrTrpCysTyrGluLeuAsnLeuIleAlaGluGlyLeuLysSerThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128023",
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000468",
      "geneNCBI_id": 270,
      "geneSymbol": "AMPD1",
      "hgvs": [
        "NM_000036.2:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000027.2:p.Gln45Ter",
        "hgvsWellDefined": "NP_000027.2:p.Gln45_Glu780delinsIleAspAspAlaMetArgAsnPheAlaGluLysValPheAlaSerGluValLysAspGluGlyGlyArgGlnGluIleSerProPheAspValAspGluIleCysProIleSerHisHisGluMetGlnAlaHisIlePheHisLeuGluThrLeuSerThrSerThrGluAlaArgArgLysLysArgPheGlnGlyArgLysThrValAsnLeuSerIleProLeuSerGluThrSerSerThrLysLeuSerHisIleAspGluTyrIleSerSerSerProThrTyrGlnThrValProAspPheGlnArgValGlnIleThrGlyAspTyrAlaSerGlyValThrValGluAspPheGluIleValCysLysGlyLeuTyrArgAlaLeuCysIleArgGluLysTyrMetGlnLysSerPheGlnArgPheProLysThrProSerLysTyrLeuArgAsnIleAspGlyGluAlaTrpValAlaAsnGluSerPheTyrProValPheThrProProValLysLysGlyGluAspProPheArgThrAspAsnLeuProGluAsnLeuGlyTyrHisLeuLysMetLysAspGlyValValTyrValTyrProAsnGluAlaAlaValSerLysAspGluProLysProLeuProTyrProAsnLeuAspThrPheLeuAspAspMetAsnPheLeuLeuAlaLeuIleAlaGlnGlyProValLysThrTyrThrHisArgArgLeuLysPheLeuSerSerLysPheGlnValHisGlnMetLeuAsnGluMetAspGluLeuLysGluLeuLysAsnAsnProHisArgAspPheTyrAsnCysArgLysValAspThrHisIleHisAlaAlaAlaCysMetAsnGlnLysHisLeuLeuArgPheIleLysLysSerTyrGlnIleAspAlaAspArgValValTyrSerThrLysGluLysAsnLeuThrLeuLysGluLeuPheAlaLysLeuLysMetHisProTyrAspLeuThrValAspSerLeuAspValHisAlaGlyArgGlnThrPheGlnArgPheAspLysPheAsnAspLysTyrAsnProValGlyAlaSerGluLeuArgAspLeuTyrLeuLysThrAspAsnTyrIleAsnGlyGluTyrPheAlaThrIleIleLysGluValGlyAlaAspLeuValGluAlaLysTyrGlnHisAlaGluProArgLeuSerIleTyrGlyArgSerProAspGluTrpSerLysLeuSerSerTrpPheValCysAsnArgIleHisCysProAsnMetThrTrpMetIleGlnValProArgIleTyrAspValPheArgSerLysAsnPheLeuProHisPheGlyLysMetLeuGluAsnIlePheMetProValPheGluAlaThrIleAsnProGlnAlaAspProGluLeuSerValPheLeuLysHisIleThrGlyPheAspSerValAspAspGluSerLysHisSerGlyHisMetPheSerSerLysSerProLysProGlnGluTrpThrLeuGluLysAsnProSerTyrThrTyrTyrAlaTyrTyrMetTyrAlaAsnIleMetValLeuAsnSerLeuArgLysGluArgGlyMetAsnThrPheLeuPheArgProHisCysGlyGluAlaGlyAlaLeuThrHisLeuMetThrAlaPheMetIleAlaAspAspIleSerHisGlyLeuAsnLeuLysLysSerProValLeuGlnTyrLeuPhePheLeuAlaGlnIleProIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuGluTyrAlaLysAsnProPheLeuAspPheLeuGlnLysGlyLeuMetIleSerLeuSerThrAspAspProMetGlnPheHisPheThrLysGluProLeuMetGluGluTyrAlaIleAlaAlaGlnValPheLysLeuSerThrCysAspMetCysGluValAlaArgAsnSerValLeuGlnCysGlyIleSerHisGluGluLysValLysPheLeuGlyAspAsnTyrLeuGluGluGlyProAlaGlyAsnAspIleArgArgThrAsnValAlaGlnIleArgMetAlaTyrArgTyrGluThrTrpCysTyrGluLeuAsnLeuIleAlaGluGlyLeuLysSerThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "+",
          "endIntronOffset": 2014,
          "referenceAllele": "C",
          "start": 169,
          "startIntronDirection": "+",
          "startIntronOffset": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000468",
      "geneNCBI_id": 270,
      "geneSymbol": "AMPD1",
      "hgvs": [
        "NM_001172626.1:c.121+2014C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166097.1:n.121+2014C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825009813",
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000468",
      "geneNCBI_id": 270,
      "geneSymbol": "AMPD1",
      "hgvs": [
        "NM_000036.3:c.34C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000027.3:p.Gln12Ter",
        "hgvsWellDefined": "NP_000027.3:p.Gln12_Glu747delinsIleAspAspAlaMetArgAsnPheAlaGluLysValPheAlaSerGluValLysAspGluGlyGlyArgGlnGluIleSerProPheAspValAspGluIleCysProIleSerHisHisGluMetGlnAlaHisIlePheHisLeuGluThrLeuSerThrSerThrGluAlaArgArgLysLysArgPheGlnGlyArgLysThrValAsnLeuSerIleProLeuSerGluThrSerSerThrLysLeuSerHisIleAspGluTyrIleSerSerSerProThrTyrGlnThrValProAspPheGlnArgValGlnIleThrGlyAspTyrAlaSerGlyValThrValGluAspPheGluIleValCysLysGlyLeuTyrArgAlaLeuCysIleArgGluLysTyrMetGlnLysSerPheGlnArgPheProLysThrProSerLysTyrLeuArgAsnIleAspGlyGluAlaTrpValAlaAsnGluSerPheTyrProValPheThrProProValLysLysGlyGluAspProPheArgThrAspAsnLeuProGluAsnLeuGlyTyrHisLeuLysMetLysAspGlyValValTyrValTyrProAsnGluAlaAlaValSerLysAspGluProLysProLeuProTyrProAsnLeuAspThrPheLeuAspAspMetAsnPheLeuLeuAlaLeuIleAlaGlnGlyProValLysThrTyrThrHisArgArgLeuLysPheLeuSerSerLysPheGlnValHisGlnMetLeuAsnGluMetAspGluLeuLysGluLeuLysAsnAsnProHisArgAspPheTyrAsnCysArgLysValAspThrHisIleHisAlaAlaAlaCysMetAsnGlnLysHisLeuLeuArgPheIleLysLysSerTyrGlnIleAspAlaAspArgValValTyrSerThrLysGluLysAsnLeuThrLeuLysGluLeuPheAlaLysLeuLysMetHisProTyrAspLeuThrValAspSerLeuAspValHisAlaGlyArgGlnThrPheGlnArgPheAspLysPheAsnAspLysTyrAsnProValGlyAlaSerGluLeuArgAspLeuTyrLeuLysThrAspAsnTyrIleAsnGlyGluTyrPheAlaThrIleIleLysGluValGlyAlaAspLeuValGluAlaLysTyrGlnHisAlaGluProArgLeuSerIleTyrGlyArgSerProAspGluTrpSerLysLeuSerSerTrpPheValCysAsnArgIleHisCysProAsnMetThrTrpMetIleGlnValProArgIleTyrAspValPheArgSerLysAsnPheLeuProHisPheGlyLysMetLeuGluAsnIlePheMetProValPheGluAlaThrIleAsnProGlnAlaAspProGluLeuSerValPheLeuLysHisIleThrGlyPheAspSerValAspAspGluSerLysHisSerGlyHisMetPheSerSerLysSerProLysProGlnGluTrpThrLeuGluLysAsnProSerTyrThrTyrTyrAlaTyrTyrMetTyrAlaAsnIleMetValLeuAsnSerLeuArgLysGluArgGlyMetAsnThrPheLeuPheArgProHisCysGlyGluAlaGlyAlaLeuThrHisLeuMetThrAlaPheMetIleAlaAspAspIleSerHisGlyLeuAsnLeuLysLysSerProValLeuGlnTyrLeuPhePheLeuAlaGlnIleProIleAlaMetSerProLeuSerAsnAsnSerLeuPheLeuGluTyrAlaLysAsnProPheLeuAspPheLeuGlnLysGlyLeuMetIleSerLeuSerThrAspAspProMetGlnPheHisPheThrLysGluProLeuMetGluGluTyrAlaIleAlaAlaGlnValPheLysLeuSerThrCysAspMetCysGluValAlaArgAsnSerValLeuGlnCysGlyIleSerHisGluGluLysValLysPheLeuGlyAspAsnTyrLeuGluGluGlyProAlaGlyAsnAspIleArgArgThrAsnValAlaGlnIleArgMetAlaTyrArgTyrGluThrTrpCysTyrGluLeuAsnLeuIleAlaGluGlyLeuLysSerThrGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710789",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000520113.7:c.34C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000036.3:c.34C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000430075.3:p.Gln12Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000027.3:p.Gln12Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 2014,
          "referenceAllele": "C",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000468",
      "geneNCBI_id": 270,
      "geneSymbol": "AMPD1",
      "hgvs": [
        "NM_001172626.2:c.22+2014C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166097.2:n.22+2014C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713433"
    }
  ],
  "type": "nucleotide"
}