{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA361704122",
  "communityStandardTitle": [
    "NM_000112.4(SLC26A2):c.139C>T (p.Gln47Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2838594[alleleid]",
        "alleleId": 2838594,
        "preferredName": "NM_000112.4(SLC26A2):c.139C>T (p.Gln47Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2678877",
        "RCV": [
          "RCV003472853"
        ],
        "variationId": 2678877
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149357354C>T?assembly=hg19",
        "id": "chr5:g.149357354C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149977791C>T?assembly=hg38",
        "id": "chr5:g.149977791C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1755018723",
        "rs": 1755018723
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149977791-C-T?dataset=gnomad_r4",
        "id": "5-149977791-C-T",
        "variant": "5:149977791 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149977791,
          "referenceAllele": "C",
          "start": 149977790
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149977791C>T",
        "CM000667.2:g.149977791C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149357354,
          "referenceAllele": "C",
          "start": 149357353
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149357354C>T",
        "CM000667.1:g.149357354C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 149337547,
          "referenceAllele": "C",
          "start": 149337546
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149337547C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18909,
          "referenceAllele": "C",
          "start": 18908
        }
      ],
      "hgvs": [
        "NG_007147.2:g.18909C>T",
        "LRG_684:g.18909C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000500"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "referenceAllele": "C",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000690410.1:n.371C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.5:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Gln47Ter",
        "hgvsWellDefined": "ENSP00000286298.4:p.Gln47_Asp739delinsCysArgProTyrHisArgIleLeuIleGluArgGlnGluLysSerAspThrAsnPheLysGluPheValIleLysLysLeuGlnLysAsnCysGlnCysSerProAlaLysAlaLysAsnMetIleLeuGlyPheLeuProValLeuGlnTrpLeuProLysTyrAspLeuLysLysAsnIleLeuGlyAspValMetSerGlyLeuIleValGlyIleLeuLeuValProGlnSerIleAlaTyrSerLeuLeuAlaGlyGlnGluProValTyrGlyLeuTyrThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.139C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.139C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Gln47Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Gln47Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "ENST00000286298.4:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286298.4:p.Gln47Ter",
        "hgvsWellDefined": "ENSP00000286298.4:p.Gln47_Asp739delinsCysArgProTyrHisArgIleLeuIleGluArgGlnGluLysSerAspThrAsnPheLysGluPheValIleLysLysLeuGlnLysAsnCysGlnCysSerProAlaLysAlaLysAsnMetIleLeuGlyPheLeuProValLeuGlnTrpLeuProLysTyrAspLeuLysLysAsnIleLeuGlyAspValMetSerGlyLeuIleValGlyIleLeuLeuValProGlnSerIleAlaTyrSerLeuLeuAlaGlyGlnGluProValTyrGlyLeuTyrThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809396",
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.3:c.139C>T",
        "LRG_684t1:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Gln47Ter",
        "hgvsWellDefined": "NP_000103.2:p.Gln47_Asp739delinsCysArgProTyrHisArgIleLeuIleGluArgGlnGluLysSerAspThrAsnPheLysGluPheValIleLysLysLeuGlnLysAsnCysGlnCysSerProAlaLysAlaLysAsnMetIleLeuGlyPheLeuProValLeuGlnTrpLeuProLysTyrAspLeuLysLysAsnIleLeuGlyAspValMetSerGlyLeuIleValGlyIleLeuLeuValProGlnSerIleAlaTyrSerLeuLeuAlaGlyGlnGluProValTyrGlyLeuTyrThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "XM_017009191.2:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864680.1:p.Gln47Ter",
        "hgvsWellDefined": "XP_016864680.1:p.Gln47_Asp739delinsCysArgProTyrHisArgIleLeuIleGluArgGlnGluLysSerAspThrAsnPheLysGluPheValIleLysLysLeuGlnLysAsnCysGlnCysSerProAlaLysAlaLysAsnMetIleLeuGlyPheLeuProValLeuGlnTrpLeuProLysTyrAspLeuLysLysAsnIleLeuGlyAspValMetSerGlyLeuIleValGlyIleLeuLeuValProGlnSerIleAlaTyrSerLeuLeuAlaGlyGlnGluProValTyrGlyLeuTyrThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809396",
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NM_000112.4:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000103.2:p.Gln47Ter",
        "hgvsWellDefined": "NP_000103.2:p.Gln47_Asp739delinsCysArgProTyrHisArgIleLeuIleGluArgGlnGluLysSerAspThrAsnPheLysGluPheValIleLysLysLeuGlnLysAsnCysGlnCysSerProAlaLysAlaLysAsnMetIleLeuGlyPheLeuProValLeuGlnTrpLeuProLysTyrAspLeuLysLysAsnIleLeuGlyAspValMetSerGlyLeuIleValGlyIleLeuLeuValProGlnSerIleAlaTyrSerLeuLeuAlaGlyGlnGluProValTyrGlyLeuTyrThrSerPhePheAlaSerIleIleTyrPheLeuLeuGlyThrSerArgHisIleSerValGlyIlePheGlyValLeuCysLeuMetIleGlyGluThrValAspArgGluLeuGlnLysAlaGlyTyrAspAsnAlaHisSerAlaProSerLeuGlyMetValSerAsnGlySerThrLeuLeuAsnHisThrSerAspArgIleCysAspLysSerCysTyrAlaIleMetValGlySerThrValThrPheIleAlaGlyValTyrGlnValAlaMetGlyPhePheGlnValGlyPheValSerValTyrLeuSerAspAlaLeuLeuSerGlyPheValThrGlyAlaSerPheThrIleLeuThrSerGlnAlaLysTyrLeuLeuGlyLeuAsnLeuProArgThrAsnGlyValGlySerLeuIleThrThrTrpIleHisValPheArgAsnIleHisLysThrAsnLeuCysAspLeuIleThrSerLeuLeuCysLeuLeuValLeuLeuProThrLysGluLeuAsnGluHisPheLysSerLysLeuLysAlaProIleProIleGluLeuValValValValAlaAlaThrLeuAlaSerHisPheGlyLysLeuHisGluAsnTyrAsnSerSerIleAlaGlyHisIleProThrGlyPheMetProProLysValProGluTrpAsnLeuIleProSerValAlaValAspAlaIleAlaIleSerIleIleGlyPheAlaIleThrValSerLeuSerGluMetPheAlaLysLysHisGlyTyrThrValLysAlaAsnGlnGluMetTyrAlaIleGlyPheCysAsnIleIleProSerPhePheHisCysPheThrThrSerAlaAlaLeuAlaLysThrLeuValLysGluSerThrGlyCysHisThrGlnLeuSerGlyValValThrAlaLeuValLeuLeuLeuValLeuLeuValIleAlaProLeuPheTyrSerLeuGlnLysSerValLeuGlyValIleThrIleValAsnLeuArgGlyAlaLeuArgLysPheArgAspLeuProLysMetTrpSerIleSerArgMetAspThrValIleTrpPheValThrMetLeuSerSerAlaLeuLeuSerThrGluIleGlyLeuLeuValGlyValCysPheSerIlePheCysValIleLeuArgThrGlnLysProLysSerSerLeuLeuGlyLeuValGluGluSerGluValPheGluSerValSerAlaTyrLysAsnLeuGlnIleLysProGlyIleLysIlePheArgPheValAlaProLeuTyrTyrIleAsnLysGluCysPheLysSerAlaLeuTyrLysGlnThrValAsnProIleLeuIleLysValAlaTrpLysLysAlaAlaLysArgLysIleLysGluLysValValThrLeuGlyGlyIleGlnAspGluMetSerValGlnLeuSerHisAspProLeuGluLeuHisThrIleValIleAspCysSerAlaIleGlnPheLeuAspThrAlaGlyIleHisThrLeuLysGluValArgArgAspTyrGluAlaIleGlyIleGlnValLeuLeuAlaGlnCysAsnProThrValArgAspSerLeuThrAsnGlyGluTyrCysLysLysGluGluGluAsnLeuLeuPheTyrSerValTyrGluAlaMetAlaPheAlaGluValSerLysAsnGlnLysGlyValCysValProAsnGlyLeuSerLeuSerSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674707",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286298.5:c.139C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000112.4:c.139C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286298.4:p.Gln47Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000103.2:p.Gln47Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}