{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414916470",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.4758G>A (p.Trp1586Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1321596[alleleid]",
        "alleleId": 1321596,
        "preferredName": "NM_000132.4(F8):c.4758G>A (p.Trp1586Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1330919",
        "RCV": [
          "RCV001802578"
        ],
        "variationId": 1330919
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154157307C>T?assembly=hg19",
        "id": "chrX:g.154157307C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154929032C>T?assembly=hg38",
        "id": "chrX:g.154929032C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2124048012",
        "rs": 2124048012
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154929032,
          "referenceAllele": "C",
          "start": 154929031
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154929032C>T",
        "CM000685.2:g.154929032C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154157307,
          "referenceAllele": "C",
          "start": 154157306
        }
      ],
      "hgvs": [
        "NC_000023.10:g.154157307C>T",
        "CM000685.1:g.154157307C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153810501,
          "referenceAllele": "C",
          "start": 153810500
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153810501C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98692,
          "referenceAllele": "G",
          "start": 98691
        }
      ],
      "hgvs": [
        "NG_011403.1:g.98692G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98692,
          "referenceAllele": "G",
          "start": 98691
        }
      ],
      "hgvs": [
        "NG_011403.2:g.98692G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4929,
          "referenceAllele": "G",
          "start": 4928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.9:c.4758G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Trp1586Ter",
        "hgvsWellDefined": "ENSP00000353393.4:p.Trp1586_Tyr2351delinsAspAsnHisTyrGlyThrGlnIleProLysGluGluTrpLysSerGlnGluLysSerProGluLysThrAlaPheLysLysLysAspThrIleLeuSerLeuAsnAlaCysGluSerAsnHisAlaIleAlaAlaIleAsnGluGlyGlnAsnLysProGluIleGluValThrTrpAlaLysGlnGlyArgThrGluArgLeuCysSerGlnAsnProProValLeuLysArgHisGlnArgGluIleThrArgThrThrLeuGlnSerAspGlnGluGluIleAspTyrAspAspThrIleSerValGluMetLysLysGluAspPheAspIleTyrAspGluAspGluAsnGlnSerProArgSerPheGlnLysLysThrArgHisTyrPheIleAlaAlaValGluArgLeuTrpAspTyrGlyMetSerSerSerProHisValLeuArgAsnArgAlaGlnSerGlySerValProGlnPheLysLysValValPheGlnGluPheThrAspGlySerPheThrGlnProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.4758G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.4758G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Trp1586Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Trp1586Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4959,
          "referenceAllele": "G",
          "start": 4958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.4758G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Trp1586Ter",
        "hgvsWellDefined": "ENSP00000353393.4:p.Trp1586_Tyr2351delinsAspAsnHisTyrGlyThrGlnIleProLysGluGluTrpLysSerGlnGluLysSerProGluLysThrAlaPheLysLysLysAspThrIleLeuSerLeuAsnAlaCysGluSerAsnHisAlaIleAlaAlaIleAsnGluGlyGlnAsnLysProGluIleGluValThrTrpAlaLysGlnGlyArgThrGluArgLeuCysSerGlnAsnProProValLeuLysArgHisGlnArgGluIleThrArgThrThrLeuGlnSerAspGlnGluGluIleAspTyrAspAspThrIleSerValGluMetLysLysGluAspPheAspIleTyrAspGluAspGluAsnGlnSerProArgSerPheGlnLysLysThrArgHisTyrPheIleAlaAlaValGluArgLeuTrpAspTyrGlyMetSerSerSerProHisValLeuArgAsnArgAlaGlnSerGlySerValProGlnPheLysLysValValPheGlnGluPheThrAspGlySerPheThrGlnProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573061421",
      "coordinates": [
        {
          "allele": "A",
          "end": 4929,
          "referenceAllele": "G",
          "start": 4928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.4758G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Trp1586Ter",
        "hgvsWellDefined": "NP_000123.1:p.Trp1586_Tyr2351delinsAspAsnHisTyrGlyThrGlnIleProLysGluGluTrpLysSerGlnGluLysSerProGluLysThrAlaPheLysLysLysAspThrIleLeuSerLeuAsnAlaCysGluSerAsnHisAlaIleAlaAlaIleAsnGluGlyGlnAsnLysProGluIleGluValThrTrpAlaLysGlnGlyArgThrGluArgLeuCysSerGlnAsnProProValLeuLysArgHisGlnArgGluIleThrArgThrThrLeuGlnSerAspGlnGluGluIleAspTyrAspAspThrIleSerValGluMetLysLysGluAspPheAspIleTyrAspGluAspGluAsnGlnSerProArgSerPheGlnLysLysThrArgHisTyrPheIleAlaAlaValGluArgLeuTrpAspTyrGlyMetSerSerSerProHisValLeuArgAsnArgAlaGlnSerGlySerValProGlnPheLysLysValValPheGlnGluPheThrAspGlySerPheThrGlnProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4770,
          "referenceAllele": "G",
          "start": 4769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.4653G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:p.Trp1551Ter",
        "hgvsWellDefined": "XP_011529428.1:p.Trp1551_Tyr2316delinsAspAsnHisTyrGlyThrGlnIleProLysGluGluTrpLysSerGlnGluLysSerProGluLysThrAlaPheLysLysLysAspThrIleLeuSerLeuAsnAlaCysGluSerAsnHisAlaIleAlaAlaIleAsnGluGlyGlnAsnLysProGluIleGluValThrTrpAlaLysGlnGlyArgThrGluArgLeuCysSerGlnAsnProProValLeuLysArgHisGlnArgGluIleThrArgThrThrLeuGlnSerAspGlnGluGluIleAspTyrAspAspThrIleSerValGluMetLysLysGluAspPheAspIleTyrAspGluAspGluAsnGlnSerProArgSerPheGlnLysLysThrArgHisTyrPheIleAlaAlaValGluArgLeuTrpAspTyrGlyMetSerSerSerProHisValLeuArgAsnArgAlaGlnSerGlySerValProGlnPheLysLysValValPheGlnGluPheThrAspGlySerPheThrGlnProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573061421",
      "coordinates": [
        {
          "allele": "A",
          "end": 4929,
          "referenceAllele": "G",
          "start": 4928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.4758G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Trp1586Ter",
        "hgvsWellDefined": "NP_000123.1:p.Trp1586_Tyr2351delinsAspAsnHisTyrGlyThrGlnIleProLysGluGluTrpLysSerGlnGluLysSerProGluLysThrAlaPheLysLysLysAspThrIleLeuSerLeuAsnAlaCysGluSerAsnHisAlaIleAlaAlaIleAsnGluGlyGlnAsnLysProGluIleGluValThrTrpAlaLysGlnGlyArgThrGluArgLeuCysSerGlnAsnProProValLeuLysArgHisGlnArgGluIleThrArgThrThrLeuGlnSerAspGlnGluGluIleAspTyrAspAspThrIleSerValGluMetLysLysGluAspPheAspIleTyrAspGluAspGluAsnGlnSerProArgSerPheGlnLysLysThrArgHisTyrPheIleAlaAlaValGluArgLeuTrpAspTyrGlyMetSerSerSerProHisValLeuArgAsnArgAlaGlnSerGlySerValProGlnPheLysLysValValPheGlnGluPheThrAspGlySerPheThrGlnProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.4758G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.4758G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Trp1586Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Trp1586Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}