{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255020",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.5113C>T (p.Gln1705Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25151[alleleid]",
        "alleleId": 25151,
        "preferredName": "NM_000132.4(F8):c.5113C>T (p.Gln1705Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10112",
        "RCV": [
          "RCV000010824"
        ],
        "variationId": 10112
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154156952G>A?assembly=hg19",
        "id": "chrX:g.154156952G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154928677G>A?assembly=hg38",
        "id": "chrX:g.154928677G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852361",
        "rs": 137852361
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 154928677,
          "referenceAllele": "G",
          "start": 154928676
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154928677G>A",
        "CM000685.2:g.154928677G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 154156952,
          "referenceAllele": "G",
          "start": 154156951
        }
      ],
      "hgvs": [
        "NC_000023.10:g.154156952G>A",
        "CM000685.1:g.154156952G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153810146,
          "referenceAllele": "G",
          "start": 153810145
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153810146G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99047,
          "referenceAllele": "C",
          "start": 99046
        }
      ],
      "hgvs": [
        "NG_011403.1:g.99047C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99047,
          "referenceAllele": "C",
          "start": 99046
        }
      ],
      "hgvs": [
        "NG_011403.2:g.99047C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5284,
          "referenceAllele": "C",
          "start": 5283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.9:c.5113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Gln1705Ter",
        "hgvsWellDefined": "ENSP00000353393.4:p.Gln1705_Tyr2351delinsSerProArgSerPheGlnLysLysThrArgHisTyrPheIleAlaAlaValGluArgLeuTrpAspTyrGlyMetSerSerSerProHisValLeuArgAsnArgAlaGlnSerGlySerValProGlnPheLysLysValValPheGlnGluPheThrAspGlySerPheThrGlnProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.5113C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.5113C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Gln1705Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Gln1705Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5314,
          "referenceAllele": "C",
          "start": 5313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.5113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Gln1705Ter",
        "hgvsWellDefined": "ENSP00000353393.4:p.Gln1705_Tyr2351delinsSerProArgSerPheGlnLysLysThrArgHisTyrPheIleAlaAlaValGluArgLeuTrpAspTyrGlyMetSerSerSerProHisValLeuArgAsnArgAlaGlnSerGlySerValProGlnPheLysLysValValPheGlnGluPheThrAspGlySerPheThrGlnProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255021",
      "coordinates": [
        {
          "allele": "T",
          "end": 5284,
          "referenceAllele": "C",
          "start": 5283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.5113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Gln1705Ter",
        "hgvsWellDefined": "NP_000123.1:p.Gln1705_Tyr2351delinsSerProArgSerPheGlnLysLysThrArgHisTyrPheIleAlaAlaValGluArgLeuTrpAspTyrGlyMetSerSerSerProHisValLeuArgAsnArgAlaGlnSerGlySerValProGlnPheLysLysValValPheGlnGluPheThrAspGlySerPheThrGlnProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5125,
          "referenceAllele": "C",
          "start": 5124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.5008C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:p.Gln1670Ter",
        "hgvsWellDefined": "XP_011529428.1:p.Gln1670_Tyr2316delinsSerProArgSerPheGlnLysLysThrArgHisTyrPheIleAlaAlaValGluArgLeuTrpAspTyrGlyMetSerSerSerProHisValLeuArgAsnArgAlaGlnSerGlySerValProGlnPheLysLysValValPheGlnGluPheThrAspGlySerPheThrGlnProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255021",
      "coordinates": [
        {
          "allele": "T",
          "end": 5284,
          "referenceAllele": "C",
          "start": 5283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.5113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Gln1705Ter",
        "hgvsWellDefined": "NP_000123.1:p.Gln1705_Tyr2351delinsSerProArgSerPheGlnLysLysThrArgHisTyrPheIleAlaAlaValGluArgLeuTrpAspTyrGlyMetSerSerSerProHisValLeuArgAsnArgAlaGlnSerGlySerValProGlnPheLysLysValValPheGlnGluPheThrAspGlySerPheThrGlnProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.5113C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.5113C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Gln1705Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Gln1705Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}