{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390982668",
  "communityStandardTitle": [
    "NM_003836.7(DLK1):c.112G>T (p.Glu38Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1687161[alleleid]",
        "alleleId": 1687161,
        "preferredName": "NM_003836.7(DLK1):c.112G>T (p.Glu38Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1694729",
        "RCV": [
          "RCV002262449"
        ],
        "variationId": 1694729
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.101194777G>T?assembly=hg19",
        "id": "chr14:g.101194777G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.100728440G>T?assembly=hg38",
        "id": "chr14:g.100728440G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143382466",
        "rs": 143382466
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 100728440,
          "referenceAllele": "G",
          "start": 100728439
        }
      ],
      "hgvs": [
        "NC_000014.9:g.100728440G>T",
        "CM000676.2:g.100728440G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 101194777,
          "referenceAllele": "G",
          "start": 101194776
        }
      ],
      "hgvs": [
        "NC_000014.8:g.101194777G>T",
        "CM000676.1:g.101194777G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 100264530,
          "referenceAllele": "G",
          "start": 100264529
        }
      ],
      "hgvs": [
        "NC_000014.7:g.100264530G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6576,
          "referenceAllele": "G",
          "start": 6575
        }
      ],
      "hgvs": [
        "NG_016863.2:g.6576G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6576,
          "referenceAllele": "G",
          "start": 6575
        }
      ],
      "hgvs": [
        "NG_016863.3:g.6576G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733345"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002907",
      "geneNCBI_id": 8788,
      "geneSymbol": "DLK1",
      "hgvs": [
        "ENST00000341267.9:c.112G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340292.4:p.Glu38Ter",
        "hgvsWellDefined": "ENSP00000340292.4:p.Glu38_Ile383delinsAspAspAsnValCysArgCysGlnProGlyTrpGlnGlyProLeuCysAspGlnCysValThrSerProGlyCysLeuHisGlyLeuCysGlyGluProGlyGlnCysIleCysThrAspGlyTrpAspGlyGluLeuCysAspArgAspValArgAlaCysSerSerAlaProCysAlaAsnAsnArgThrCysValSerLeuAspAspGlyLeuTyrGluCysSerCysAlaProGlyTyrSerGlyLysAspCysGlnLysLysAspGlyProCysValIleAsnGlySerProCysGlnHisGlyGlyThrCysValAspAspGluGlyArgAlaSerHisAlaSerCysLeuCysProProGlyPheSerGlyAsnPheCysGluIleValAlaAsnSerCysThrProAsnProCysGluAsnAspGlyValCysThrAspIleGlyGlyAspPheArgCysArgCysProAlaGlyPheIleAspLysThrCysSerArgProValThrAsnCysAlaSerSerProCysGlnAsnGlyGlyThrCysLeuGlnHisThrGlnValSerTyrGluCysLeuCysLysProGluPheThrGlyLeuThrCysValLysLysArgAlaLeuSerProGlnGlnValThrArgLeuProSerGlyTyrGlyLeuAlaTyrArgLeuThrProGlyValHisGluLeuProValGlnGlnProGluHisArgIleLeuLysValSerMetLysGluLeuAsnLysLysThrProLeuLeuThrGluGlyGlnAlaIleCysPheThrIleLeuGlyValLeuThrSerLeuValValLeuGlyThrValGlyIleValPheLeuAsnLysCysGluThrTrpValSerAsnLeuArgTyrAsnHisMetLeuArgLysLysLysAsnLeuLeuLeuGlnTyrAsnSerGlyGluAspLeuAlaValAsnIleIlePheProGluLysIleAspMetThrThrPheSerLysGluAlaGlyAspGluGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747975",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341267.9:c.112G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003836.7:c.112G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340292.4:p.Glu38Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003827.4:p.Glu38Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002907",
      "geneNCBI_id": 8788,
      "geneSymbol": "DLK1",
      "hgvs": [
        "ENST00000331224.10:c.112G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331081.6:p.Glu38Ter",
        "hgvsWellDefined": "ENSP00000331081.6:p.Glu38_Ile310delinsAspAspAsnValCysArgCysGlnProGlyTrpGlnGlyProLeuCysAspGlnCysValThrSerProGlyCysLeuHisGlyLeuCysGlyGluProGlyGlnCysIleCysThrAspGlyTrpAspGlyGluLeuCysAspArgAspValArgAlaCysSerSerAlaProCysAlaAsnAsnArgThrCysValSerLeuAspAspGlyLeuTyrGluCysSerCysAlaProGlyTyrSerGlyLysAspCysGlnLysLysAspGlyProCysValIleAsnGlySerProCysGlnHisGlyGlyThrCysValAspAspGluGlyArgAlaSerHisAlaSerCysLeuCysProProGlyPheSerGlyAsnPheCysGluIleValAlaAsnSerCysThrProAsnProCysGluAsnAspGlyValCysThrAspIleGlyGlyAspPheArgCysArgCysProAlaGlyPheIleAspLysThrCysSerArgProValThrAsnCysAlaSerSerProCysGlnAsnGlyGlyThrCysLeuGlnHisThrGlnGlyGlnAlaIleCysPheThrIleLeuGlyValLeuThrSerLeuValValLeuGlyThrValGlyIleValPheLeuAsnLysCysGluThrTrpValSerAsnLeuArgTyrAsnHisMetLeuArgLysLysLysAsnLeuLeuLeuGlnTyrAsnSerGlyGluAspLeuAlaValAsnIleIlePheProGluLysIleAspMetThrThrPheSerLysGluAlaGlyAspGluGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002907",
      "geneNCBI_id": 8788,
      "geneSymbol": "DLK1",
      "hgvs": [
        "ENST00000341267.8:c.112G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340292.4:p.Glu38Ter",
        "hgvsWellDefined": "ENSP00000340292.4:p.Glu38_Ile383delinsAspAspAsnValCysArgCysGlnProGlyTrpGlnGlyProLeuCysAspGlnCysValThrSerProGlyCysLeuHisGlyLeuCysGlyGluProGlyGlnCysIleCysThrAspGlyTrpAspGlyGluLeuCysAspArgAspValArgAlaCysSerSerAlaProCysAlaAsnAsnArgThrCysValSerLeuAspAspGlyLeuTyrGluCysSerCysAlaProGlyTyrSerGlyLysAspCysGlnLysLysAspGlyProCysValIleAsnGlySerProCysGlnHisGlyGlyThrCysValAspAspGluGlyArgAlaSerHisAlaSerCysLeuCysProProGlyPheSerGlyAsnPheCysGluIleValAlaAsnSerCysThrProAsnProCysGluAsnAspGlyValCysThrAspIleGlyGlyAspPheArgCysArgCysProAlaGlyPheIleAspLysThrCysSerArgProValThrAsnCysAlaSerSerProCysGlnAsnGlyGlyThrCysLeuGlnHisThrGlnValSerTyrGluCysLeuCysLysProGluPheThrGlyLeuThrCysValLysLysArgAlaLeuSerProGlnGlnValThrArgLeuProSerGlyTyrGlyLeuAlaTyrArgLeuThrProGlyValHisGluLeuProValGlnGlnProGluHisArgIleLeuLysValSerMetLysGluLeuAsnLysLysThrProLeuLeuThrGluGlyGlnAlaIleCysPheThrIleLeuGlyValLeuThrSerLeuValValLeuGlyThrValGlyIleValPheLeuAsnLysCysGluThrTrpValSerAsnLeuArgTyrAsnHisMetLeuArgLysLysLysAsnLeuLeuLeuGlnTyrAsnSerGlyGluAspLeuAlaValAsnIleIlePheProGluLysIleAspMetThrThrPheSerLysGluAlaGlyAspGluGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002907",
      "geneNCBI_id": 8788,
      "geneSymbol": "DLK1",
      "hgvs": [
        "ENST00000392848.9:c.112G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376589.5:p.Glu38Ter",
        "hgvsWellDefined": "ENSP00000376589.5:p.Glu38_Cys97del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002907",
      "geneNCBI_id": 8788,
      "geneSymbol": "DLK1",
      "hgvs": [
        "ENST00000555747.1:n.288G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "referenceAllele": "G",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002907",
      "geneNCBI_id": 8788,
      "geneSymbol": "DLK1",
      "hgvs": [
        "ENST00000556051.1:c.112G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450821.1:p.Glu38Ter",
        "hgvsWellDefined": "ENSP00000450821.1:p.Glu38_Leu136delinsAspAspAsnValCysArgCysGlnProGlyTrpGlnGlyProLeuCysAspGlnCysValThrSerProGlyCysLeuHisGlyLeuCysGlyGluProGlyGlnCysIleCysThrAspGlyTrpAspGlyGluLeuCysAspArgGlyTrpHisSerProLeuPheThrSerAlaLeuArgProTyrLeuProAlaLeuAlaProThrThrSerSerGlnSerProValAlaGlyValProHisPheLeuIleProAlaHisSerValProCysIleLeuLysIleCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "referenceAllele": "G",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002907",
      "geneNCBI_id": 8788,
      "geneSymbol": "DLK1",
      "hgvs": [
        "NM_003836.5:c.112G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003827.3:p.Glu38Ter",
        "hgvsWellDefined": "NP_003827.3:p.Glu38_Ile383delinsAspAspAsnValCysArgCysGlnProGlyTrpGlnGlyProLeuCysAspGlnCysValThrSerProGlyCysLeuHisGlyLeuCysGlyGluProGlyGlnCysIleCysThrAspGlyTrpAspGlyGluLeuCysAspArgAspValArgAlaCysSerSerAlaProCysAlaAsnAsnGlyThrCysValSerLeuAspAspGlyLeuTyrGluCysSerCysAlaProGlyTyrSerGlyLysAspCysGlnLysLysAspGlyProCysValIleAsnGlySerProCysGlnHisGlyGlyThrCysValAspAspGluGlyArgAlaSerHisAlaSerCysLeuCysProProGlyPheSerGlyAsnPheCysGluIleValAlaAsnSerCysThrProAsnProCysGluAsnAspGlyValCysThrAspIleGlyGlyAspPheArgCysArgCysProAlaGlyPheIleAspLysThrCysSerArgProValThrAsnCysAlaSerSerProCysGlnAsnGlyGlyThrCysLeuGlnHisThrGlnValSerTyrGluCysLeuCysLysProGluPheThrGlyLeuThrCysValLysLysArgAlaLeuSerProGlnGlnValThrArgLeuProSerGlyTyrGlyLeuAlaTyrArgLeuThrProGlyValHisGluLeuProValGlnGlnProGluHisArgIleLeuLysValSerMetLysGluLeuAsnLysLysThrProLeuLeuThrGluGlyGlnAlaIleCysPheThrIleLeuGlyValLeuThrSerLeuValValLeuGlyThrValGlyIleValPheLeuAsnLysCysGluThrTrpValSerAsnLeuArgTyrAsnHisMetLeuArgLysLysLysAsnLeuLeuLeuGlnTyrAsnSerGlyGluAspLeuAlaValAsnIleIlePheProGluLysIleAspMetThrThrPheSerLysGluAlaGlyAspGluGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "referenceAllele": "G",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002907",
      "geneNCBI_id": 8788,
      "geneSymbol": "DLK1",
      "hgvs": [
        "NM_001317172.1:c.112G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304101.1:p.Glu38Ter",
        "hgvsWellDefined": "NP_001304101.1:p.Glu38_Ile310delinsAspAspAsnValCysArgCysGlnProGlyTrpGlnGlyProLeuCysAspGlnCysValThrSerProGlyCysLeuHisGlyLeuCysGlyGluProGlyGlnCysIleCysThrAspGlyTrpAspGlyGluLeuCysAspArgAspValArgAlaCysSerSerAlaProCysAlaAsnAsnGlyThrCysValSerLeuAspAspGlyLeuTyrGluCysSerCysAlaProGlyTyrSerGlyLysAspCysGlnLysLysAspGlyProCysValIleAsnGlySerProCysGlnHisGlyGlyThrCysValAspAspGluGlyArgAlaSerHisAlaSerCysLeuCysProProGlyPheSerGlyAsnPheCysGluIleValAlaAsnSerCysThrProAsnProCysGluAsnAspGlyValCysThrAspIleGlyGlyAspPheArgCysArgCysProAlaGlyPheIleAspLysThrCysSerArgProValThrAsnCysAlaSerSerProCysGlnAsnGlyGlyThrCysLeuGlnHisThrGlnGlyGlnAlaIleCysPheThrIleLeuGlyValLeuThrSerLeuValValLeuGlyThrValGlyIleValPheLeuAsnLysCysGluThrTrpValSerAsnLeuArgTyrAsnHisMetLeuArgLysLysLysAsnLeuLeuLeuGlnTyrAsnSerGlyGluAspLeuAlaValAsnIleIlePheProGluLysIleAspMetThrThrPheSerLysGluAlaGlyAspGluGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "referenceAllele": "G",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002907",
      "geneNCBI_id": 8788,
      "geneSymbol": "DLK1",
      "hgvs": [
        "NM_003836.6:c.112G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003827.3:p.Glu38Ter",
        "hgvsWellDefined": "NP_003827.3:p.Glu38_Ile383delinsAspAspAsnValCysArgCysGlnProGlyTrpGlnGlyProLeuCysAspGlnCysValThrSerProGlyCysLeuHisGlyLeuCysGlyGluProGlyGlnCysIleCysThrAspGlyTrpAspGlyGluLeuCysAspArgAspValArgAlaCysSerSerAlaProCysAlaAsnAsnGlyThrCysValSerLeuAspAspGlyLeuTyrGluCysSerCysAlaProGlyTyrSerGlyLysAspCysGlnLysLysAspGlyProCysValIleAsnGlySerProCysGlnHisGlyGlyThrCysValAspAspGluGlyArgAlaSerHisAlaSerCysLeuCysProProGlyPheSerGlyAsnPheCysGluIleValAlaAsnSerCysThrProAsnProCysGluAsnAspGlyValCysThrAspIleGlyGlyAspPheArgCysArgCysProAlaGlyPheIleAspLysThrCysSerArgProValThrAsnCysAlaSerSerProCysGlnAsnGlyGlyThrCysLeuGlnHisThrGlnValSerTyrGluCysLeuCysLysProGluPheThrGlyLeuThrCysValLysLysArgAlaLeuSerProGlnGlnValThrArgLeuProSerGlyTyrGlyLeuAlaTyrArgLeuThrProGlyValHisGluLeuProValGlnGlnProGluHisArgIleLeuLysValSerMetLysGluLeuAsnLysLysThrProLeuLeuThrGluGlyGlnAlaIleCysPheThrIleLeuGlyValLeuThrSerLeuValValLeuGlyThrValGlyIleValPheLeuAsnLysCysGluThrTrpValSerAsnLeuArgTyrAsnHisMetLeuArgLysLysLysAsnLeuLeuLeuGlnTyrAsnSerGlyGluAspLeuAlaValAsnIleIlePheProGluLysIleAspMetThrThrPheSerLysGluAlaGlyAspGluGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826958266",
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002907",
      "geneNCBI_id": 8788,
      "geneSymbol": "DLK1",
      "hgvs": [
        "NM_001317172.2:c.112G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304101.2:p.Glu38Ter",
        "hgvsWellDefined": "NP_001304101.2:p.Glu38_Ile310delinsAspAspAsnValCysArgCysGlnProGlyTrpGlnGlyProLeuCysAspGlnCysValThrSerProGlyCysLeuHisGlyLeuCysGlyGluProGlyGlnCysIleCysThrAspGlyTrpAspGlyGluLeuCysAspArgAspValArgAlaCysSerSerAlaProCysAlaAsnAsnArgThrCysValSerLeuAspAspGlyLeuTyrGluCysSerCysAlaProGlyTyrSerGlyLysAspCysGlnLysLysAspGlyProCysValIleAsnGlySerProCysGlnHisGlyGlyThrCysValAspAspGluGlyArgAlaSerHisAlaSerCysLeuCysProProGlyPheSerGlyAsnPheCysGluIleValAlaAsnSerCysThrProAsnProCysGluAsnAspGlyValCysThrAspIleGlyGlyAspPheArgCysArgCysProAlaGlyPheIleAspLysThrCysSerArgProValThrAsnCysAlaSerSerProCysGlnAsnGlyGlyThrCysLeuGlnHisThrGlnGlyGlnAlaIleCysPheThrIleLeuGlyValLeuThrSerLeuValValLeuGlyThrValGlyIleValPheLeuAsnLysCysGluThrTrpValSerAsnLeuArgTyrAsnHisMetLeuArgLysLysLysAsnLeuLeuLeuGlnTyrAsnSerGlyGluAspLeuAlaValAsnIleIlePheProGluLysIleAspMetThrThrPheSerLysGluAlaGlyAspGluGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684258"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580297379",
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002907",
      "geneNCBI_id": 8788,
      "geneSymbol": "DLK1",
      "hgvs": [
        "NM_003836.7:c.112G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003827.4:p.Glu38Ter",
        "hgvsWellDefined": "NP_003827.4:p.Glu38_Ile383delinsAspAspAsnValCysArgCysGlnProGlyTrpGlnGlyProLeuCysAspGlnCysValThrSerProGlyCysLeuHisGlyLeuCysGlyGluProGlyGlnCysIleCysThrAspGlyTrpAspGlyGluLeuCysAspArgAspValArgAlaCysSerSerAlaProCysAlaAsnAsnArgThrCysValSerLeuAspAspGlyLeuTyrGluCysSerCysAlaProGlyTyrSerGlyLysAspCysGlnLysLysAspGlyProCysValIleAsnGlySerProCysGlnHisGlyGlyThrCysValAspAspGluGlyArgAlaSerHisAlaSerCysLeuCysProProGlyPheSerGlyAsnPheCysGluIleValAlaAsnSerCysThrProAsnProCysGluAsnAspGlyValCysThrAspIleGlyGlyAspPheArgCysArgCysProAlaGlyPheIleAspLysThrCysSerArgProValThrAsnCysAlaSerSerProCysGlnAsnGlyGlyThrCysLeuGlnHisThrGlnValSerTyrGluCysLeuCysLysProGluPheThrGlyLeuThrCysValLysLysArgAlaLeuSerProGlnGlnValThrArgLeuProSerGlyTyrGlyLeuAlaTyrArgLeuThrProGlyValHisGluLeuProValGlnGlnProGluHisArgIleLeuLysValSerMetLysGluLeuAsnLysLysThrProLeuLeuThrGluGlyGlnAlaIleCysPheThrIleLeuGlyValLeuThrSerLeuValValLeuGlyThrValGlyIleValPheLeuAsnLysCysGluThrTrpValSerAsnLeuArgTyrAsnHisMetLeuArgLysLysLysAsnLeuLeuLeuGlnTyrAsnSerGlyGluAspLeuAlaValAsnIleIlePheProGluLysIleAspMetThrThrPheSerLysGluAlaGlyAspGluGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727440",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341267.9:c.112G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003836.7:c.112G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340292.4:p.Glu38Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003827.4:p.Glu38Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}