{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118707",
  "communityStandardTitle": [
    "NM_004560.4(ROR2):c.2246G>A (p.Trp749Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22344[alleleid]",
        "alleleId": 22344,
        "preferredName": "NM_004560.4(ROR2):c.2246G>A (p.Trp749Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7305",
        "RCV": [
          "RCV000007728"
        ],
        "variationId": 7305
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.94486530C>T?assembly=hg19",
        "id": "chr9:g.94486530C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.91724248C>T?assembly=hg38",
        "id": "chr9:g.91724248C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894122",
        "rs": 104894122
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 91724248,
          "referenceAllele": "C",
          "start": 91724247
        }
      ],
      "hgvs": [
        "NC_000009.12:g.91724248C>T",
        "CM000671.2:g.91724248C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 94486530,
          "referenceAllele": "C",
          "start": 94486529
        }
      ],
      "hgvs": [
        "NC_000009.11:g.94486530C>T",
        "CM000671.1:g.94486530C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 93526351,
          "referenceAllele": "C",
          "start": 93526350
        }
      ],
      "hgvs": [
        "NC_000009.10:g.93526351C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 230915,
          "referenceAllele": "G",
          "start": 230914
        }
      ],
      "hgvs": [
        "NG_008089.1:g.230915G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000834"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2511,
          "referenceAllele": "G",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "ENST00000375708.4:c.2246G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364860.3:p.Trp749Ter",
        "hgvsWellDefined": "ENSP00000364860.3:p.Trp749_Ala943delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751654",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375708.4:c.2246G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004560.4:c.2246G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364860.3:p.Trp749Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004551.2:p.Trp749Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2445,
          "referenceAllele": "G",
          "start": 2444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "ENST00000375708.3:c.2246G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364860.3:p.Trp749Ter",
        "hgvsWellDefined": "ENSP00000364860.3:p.Trp749_Ala943delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2423,
          "referenceAllele": "G",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "ENST00000375715.5:c.1826G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364867.1:p.Trp609Ter",
        "hgvsWellDefined": "ENSP00000364867.1:p.Trp609_Ala704delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValValArgMetArgGlySerGlyArgGlnCysTrpMetThrGluThrProAsnAlaLeuLeuTrpHisAsnValSerGlyValGlySerCysArgTrpValArgGlyLeuAlaAspPheLysAspGluAlaThrAspPheArgValMetProArgAspProSerLeuHisCysHisValThrSerThrAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2714,
          "referenceAllele": "G",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "ENST00000550066.5:n.2714G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367826"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118708",
      "coordinates": [
        {
          "allele": "A",
          "end": 2445,
          "referenceAllele": "G",
          "start": 2444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "NM_004560.3:c.2246G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004551.2:p.Trp749Ter",
        "hgvsWellDefined": "NP_004551.2:p.Trp749_Ala943delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2384,
          "referenceAllele": "G",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "XM_005252008.3:c.1826G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252065.1:p.Trp609Ter",
        "hgvsWellDefined": "XP_005252065.1:p.Trp609_Ala803delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "XM_005252009.3:c.1043G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252066.1:p.Trp348Ter",
        "hgvsWellDefined": "XP_005252066.1:p.Trp348_Ala542delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2375,
          "referenceAllele": "G",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "XM_006717121.2:c.1826G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717184.1:p.Trp609Ter",
        "hgvsWellDefined": "XP_006717184.1:p.Trp609_Ala803delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3098,
          "referenceAllele": "G",
          "start": 3097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "XM_011518721.1:c.1826G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517023.1:p.Trp609Ter",
        "hgvsWellDefined": "XP_011517023.1:p.Trp609_Ala803delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2410,
          "referenceAllele": "G",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "XM_005252008.4:c.1826G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252065.1:p.Trp609Ter",
        "hgvsWellDefined": "XP_005252065.1:p.Trp609_Ala803delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3067,
          "referenceAllele": "G",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "XM_006717121.3:c.1826G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717184.1:p.Trp609Ter",
        "hgvsWellDefined": "XP_006717184.1:p.Trp609_Ala803delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4142,
          "referenceAllele": "G",
          "start": 4141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "XM_017014762.1:c.2237G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870251.1:p.Trp746Ter",
        "hgvsWellDefined": "XP_016870251.1:p.Trp746_Ala940delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2321,
          "referenceAllele": "G",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "XM_017014763.1:c.1826G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870252.1:p.Trp609Ter",
        "hgvsWellDefined": "XP_016870252.1:p.Trp609_Ala803delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118708",
      "coordinates": [
        {
          "allele": "A",
          "end": 2511,
          "referenceAllele": "G",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010257",
      "geneNCBI_id": 4920,
      "geneSymbol": "ROR2",
      "hgvs": [
        "NM_004560.4:c.2246G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004551.2:p.Trp749Ter",
        "hgvsWellDefined": "NP_004551.2:p.Trp749_Ala943delinsGlyAsnLeuSerAsnTyrAsnSerSerAlaGlnThrSerGlyAlaSerAsnThrThrGlnThrSerSerLeuSerThrSerProValSerAsnValSerAsnAlaArgTyrValGlyProLysGlnLysAlaProProPheProGlnProGlnPheIleProMetLysGlyGlnIleArgProMetValProProProGlnLeuTyrValProValAsnGlyTyrGlnProValProAlaTyrGlyAlaTyrLeuProAsnPheTyrProValGlnIleProMetGlnMetAlaProGlnGlnValProProGlnMetValProLysProSerSerHisHisSerGlySerGlySerThrSerThrGlyTyrValThrThrAlaProSerAsnThrSerMetAlaAspArgAlaAlaLeuLeuSerGluGlyAlaAspAspThrGlnAsnAlaProGluAspGlyAlaGlnSerThrValGlnGluAlaGluGluGluGluGluGlySerValProGluThrGluLeuLeuGlyAspCysAspThrLeuGlnValAspGluAlaGlnValGlnLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375708.4:c.2246G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004560.4:c.2246G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364860.3:p.Trp749Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004551.2:p.Trp749Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}