{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274009",
  "communityStandardTitle": [
    "NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186771[alleleid]",
        "alleleId": 186771,
        "preferredName": "NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188828",
        "RCV": [
          "RCV000169174",
          "RCV000596854",
          "RCV001380986"
        ],
        "variationId": 188828
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.87755744G>A?assembly=hg19",
        "id": "chr8:g.87755744G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.86743516G>A?assembly=hg38",
        "id": "chr8:g.86743516G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786204498",
        "rs": 786204498
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 86743516,
          "referenceAllele": "G",
          "start": 86743515
        }
      ],
      "hgvs": [
        "NC_000008.11:g.86743516G>A",
        "CM000670.2:g.86743516G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 87755744,
          "referenceAllele": "G",
          "start": 87755743
        }
      ],
      "hgvs": [
        "NC_000008.10:g.87755744G>A",
        "CM000670.1:g.87755744G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 87824860,
          "referenceAllele": "G",
          "start": 87824859
        }
      ],
      "hgvs": [
        "NC_000008.9:g.87824860G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5160,
          "referenceAllele": "C",
          "start": 5159
        }
      ],
      "hgvs": [
        "NG_016980.1:g.5160C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "C",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.6:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:p.Gln38Ter",
        "hgvsWellDefined": "ENSP00000316605.5:p.Gln39_Gln809delinsThrThrAlaGlnGluGluAsnLysGlyGluGluLysSerLeuLysThrLysSerThrProValThrSerGluGluProHisThrAsnIleGlnAspLysLeuSerLysLysAsnSerSerGlyAspLeuThrThrAsnProAspProGlnAsnAlaAlaGluProThrGlyThrValProGluGlnLysGluMetAspProGlyLysGluGlyProAsnSerProGlnAsnLysProProAlaAlaProValIleAsnGluTyrAlaAspAlaGlnLeuHisAsnLeuValLysArgMetArgGlnArgThrAlaLeuTyrLysLysLysLeuValGluGlyAspLeuSerSerProGluAlaSerProGlnThrAlaLysProThrAlaValProProValLysGluSerAspAspLysProThrGluHisTyrTyrArgLeuLeuTrpPheLysValLysLysMetProLeuThrGluTyrLeuLysArgIleLysLeuProAsnSerIleAspSerTyrThrAspArgLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.112C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.112C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:p.Gln38Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:p.Gln38Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "referenceAllele": "C",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000681746.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505959.1:p.Gln38Ter",
        "hgvsWellDefined": "ENSP00000505959.1:p.Gln39_Leu562delinsThrThrAlaGlnGluGluAsnLysGlyGluGluLysSerLeuLysThrLysSerThrProValThrSerGluGluProHisThrAsnIleGlnAspLysLeuSerLysLysAsnSerSerGlyAspLeuThrThrAsnProAspProGlnAsnAlaAlaGluProThrGlyThrValProGluGlnLysGluMetAspProGlyLysGluGlyProAsnSerProGlnAsnLysProProAlaAlaProValIleAsnGluTyrAlaAspAlaGlnLeuHisAsnLeuValLysArgMetArgGlnArgThrAlaLeuTyrLysLysLysLeuValGluGlyAspLeuSerSerProGluAlaSerProGlnThrAlaLysProThrAlaValProProValLysGluSerAspAspLysProThrGluHisTyrTyrArgLeuLeuTrpPheLysValLysLysMetProLeuThrGluTyrLeuLysArgIleLysLeuProAsnSerIleAspSerTyrThrAspArgLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysAlaArgCysSerGlySerArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "referenceAllele": "C",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000320005.5:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316605.5:p.Gln38Ter",
        "hgvsWellDefined": "ENSP00000316605.5:p.Gln39_Gln809delinsThrThrAlaGlnGluGluAsnLysGlyGluGluLysSerLeuLysThrLysSerThrProValThrSerGluGluProHisThrAsnIleGlnAspLysLeuSerLysLysAsnSerSerGlyAspLeuThrThrAsnProAspProGlnAsnAlaAlaGluProThrGlyThrValProGluGlnLysGluMetAspProGlyLysGluGlyProAsnSerProGlnAsnLysProProAlaAlaProValIleAsnGluTyrAlaAspAlaGlnLeuHisAsnLeuValLysArgMetArgGlnArgThrAlaLeuTyrLysLysLysLeuValGluGlyAspLeuSerSerProGluAlaSerProGlnThrAlaLysProThrAlaValProProValLysGluSerAspAspLysProThrGluHisTyrTyrArgLeuLeuTrpPheLysValLysLysMetProLeuThrGluTyrLeuLysArgIleLysLeuProAsnSerIleAspSerTyrThrAspArgLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "ENST00000519777.1:n.94C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274010",
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "referenceAllele": "C",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.4:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:p.Gln38Ter",
        "hgvsWellDefined": "NP_061971.3:p.Gln39_Gln809delinsThrThrAlaGlnGluGluAsnLysGlyGluGluLysSerLeuLysThrLysSerThrProValThrSerGluGluProHisThrAsnIleGlnAspLysLeuSerLysLysAsnSerSerGlyAspLeuThrThrAsnProAspProGlnAsnAlaAlaGluProThrGlyThrValProGluGlnLysGluMetAspProGlyLysGluGlyProAsnSerProGlnAsnLysProProAlaAlaProValIleAsnGluTyrAlaAspAlaGlnLeuHisAsnLeuValLysArgMetArgGlnArgThrAlaLeuTyrLysLysLysLeuValGluGlyAspLeuSerSerProGluAlaSerProGlnThrAlaLysProThrAlaValProProValLysGluSerAspAspLysProThrGluHisTyrTyrArgLeuLeuTrpPheLysValLysLysMetProLeuThrGluTyrLeuLysArgIleLysLeuProAsnSerIleAspSerTyrThrAspArgLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036086"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274010",
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "C",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002153",
      "geneNCBI_id": 54714,
      "geneSymbol": "CNGB3",
      "hgvs": [
        "NM_019098.5:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061971.3:p.Gln38Ter",
        "hgvsWellDefined": "NP_061971.3:p.Gln39_Gln809delinsThrThrAlaGlnGluGluAsnLysGlyGluGluLysSerLeuLysThrLysSerThrProValThrSerGluGluProHisThrAsnIleGlnAspLysLeuSerLysLysAsnSerSerGlyAspLeuThrThrAsnProAspProGlnAsnAlaAlaGluProThrGlyThrValProGluGlnLysGluMetAspProGlyLysGluGlyProAsnSerProGlnAsnLysProProAlaAlaProValIleAsnGluTyrAlaAspAlaGlnLeuHisAsnLeuValLysArgMetArgGlnArgThrAlaLeuTyrLysLysLysLeuValGluGlyAspLeuSerSerProGluAlaSerProGlnThrAlaLysProThrAlaValProProValLysGluSerAspAspLysProThrGluHisTyrTyrArgLeuLeuTrpPheLysValLysLysMetProLeuThrGluTyrLeuLysArgIleLysLeuProAsnSerIleAspSerTyrThrAspArgLeuTyrLeuLeuTrpLeuLeuLeuValThrLeuAlaTyrAsnTrpAsnCysCysPheIleProLeuArgLeuValPheProTyrGlnThrAlaAspAsnIleHisTyrTrpLeuIleAlaAspIleIleCysAspIleIleTyrLeuTyrAspMetLeuPheIleGlnProArgLeuGlnPheValArgGlyGlyAspIleIleValAspSerAsnGluLeuArgLysHisTyrArgThrSerThrLysPheGlnLeuAspValAlaSerIleIleProPheAspIleCysTyrLeuPhePheGlyPheAsnProMetPheArgAlaAsnArgMetLeuLysTyrThrSerPhePheGluPheAsnHisHisLeuGluSerIleMetAspLysAlaTyrIleTyrArgValIleArgThrThrGlyTyrLeuLeuPheIleLeuHisIleAsnAlaCysValTyrTyrTrpAlaSerAsnTyrGluGlyIleGlyThrThrArgTrpValTyrAspGlyGluGlyAsnGluTyrLeuArgCysTyrTyrTrpAlaValArgThrLeuIleThrIleGlyGlyLeuProGluProGlnThrLeuPheGluIleValPheGlnLeuLeuAsnPhePheSerGlyValPheValPheSerSerLeuIleGlyGlnMetArgAspValIleGlyAlaAlaThrAlaAsnGlnAsnTyrPheArgAlaCysMetAspAspThrIleAlaTyrMetAsnAsnTyrSerIleProLysLeuValGlnLysArgValArgThrTrpTyrGluTyrThrTrpAspSerGlnArgMetLeuAspGluSerAspLeuLeuLysThrLeuProThrThrValGlnLeuAlaLeuAlaIleAspValAsnPheSerIleIleSerLysValAspLeuPheLysGlyCysAspThrGlnMetIleTyrAspMetLeuLeuArgLeuLysSerValLeuTyrLeuProGlyAspPheValCysLysLysGlyGluIleGlyLysGluMetTyrIleIleLysHisGlyGluValGlnValLeuGlyGlyProAspGlyThrLysValLeuValThrLeuLysAlaGlySerValPheGlyGluIleSerLeuLeuAlaAlaGlyGlyGlyAsnArgArgThrAlaAsnValValAlaHisGlyPheAlaAsnLeuLeuThrLeuAspLysLysThrLeuGlnGluIleLeuValHisTyrProAspSerGluArgIleLeuMetLysLysAlaArgValLeuLeuLysGlnLysAlaLysThrAlaGluAlaThrProProArgLysAspLeuAlaLeuLeuPheProProLysGluGluThrProLysLeuPheLysThrLeuLeuGlyGlyThrGlyLysAlaSerLeuAlaArgLeuLeuLysLeuLysArgGluGlnAlaAlaGlnLysLysGluAsnSerGluGlyGlyGluGluGluGlyLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlnLysGluAsnGluAspLysGlyLysGluAsnGluAspLysAspLysGlyArgGluProGluGluLysProLeuAspArgProGluCysThrAlaSerProIleAlaValGluGluGluProHisSerValArgArgThrValLeuProArgGlyThrSerArgGlnSerLeuIleIleSerMetAlaProSerAlaGluGlyGlyGluGluValLeuThrIleGluValLysGluLysAlaLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320005.6:c.112C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019098.5:c.112C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316605.5:p.Gln38Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061971.3:p.Gln38Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}