{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414910955",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2417984[alleleid]",
        "alleleId": 2417984,
        "preferredName": "NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2444251",
        "RCV": [
          "RCV003153049"
        ],
        "variationId": 2444251
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154134778G>A?assembly=hg19",
        "id": "chrX:g.154134778G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154906503G>A?assembly=hg38",
        "id": "chrX:g.154906503G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2523887288",
        "rs": 2523887288
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 154906503,
          "referenceAllele": "G",
          "start": 154906502
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154906503G>A",
        "CM000685.2:g.154906503G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 154134778,
          "referenceAllele": "G",
          "start": 154134777
        }
      ],
      "hgvs": [
        "NC_000023.10:g.154134778G>A",
        "CM000685.1:g.154134778G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153787972,
          "referenceAllele": "G",
          "start": 153787971
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153787972G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121221,
          "referenceAllele": "C",
          "start": 121220
        }
      ],
      "hgvs": [
        "NG_011403.1:g.121221C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121221,
          "referenceAllele": "C",
          "start": 121220
        }
      ],
      "hgvs": [
        "NG_011403.2:g.121221C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5461,
          "referenceAllele": "C",
          "start": 5460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.9:c.5290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Gln1764Ter",
        "hgvsWellDefined": "ENSP00000353393.4:p.Gln1764_Tyr2351delinsProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.5290C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.5290C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Gln1764Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Gln1764Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5491,
          "referenceAllele": "C",
          "start": 5490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.5290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Gln1764Ter",
        "hgvsWellDefined": "ENSP00000353393.4:p.Gln1764_Tyr2351delinsProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580105341",
      "coordinates": [
        {
          "allele": "T",
          "end": 5461,
          "referenceAllele": "C",
          "start": 5460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.5290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Gln1764Ter",
        "hgvsWellDefined": "NP_000123.1:p.Gln1764_Tyr2351delinsProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5302,
          "referenceAllele": "C",
          "start": 5301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.5185C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:p.Gln1729Ter",
        "hgvsWellDefined": "XP_011529428.1:p.Gln1729_Tyr2316delinsProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580105341",
      "coordinates": [
        {
          "allele": "T",
          "end": 5461,
          "referenceAllele": "C",
          "start": 5460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.5290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Gln1764Ter",
        "hgvsWellDefined": "NP_000123.1:p.Gln1764_Tyr2351delinsProLeuTyrArgGlyGluLeuAsnGluHisLeuGlyLeuLeuGlyProTyrIleArgAlaGluValGluAspAsnIleMetValThrPheArgAsnGlnAlaSerArgProTyrSerPheTyrSerSerLeuIleSerTyrGluGluAspGlnArgGlnGlyAlaGluProArgLysAsnPheValLysProAsnGluThrLysThrTyrPheTrpLysValGlnHisHisMetAlaProThrLysAspGluPheAspCysLysAlaTrpAlaTyrPheSerAspValAspLeuGluLysAspValHisSerGlyLeuIleGlyProLeuLeuValCysHisThrAsnThrLeuAsnProAlaHisGlyArgGlnValThrValGlnGluPheAlaLeuPhePheThrIlePheAspGluThrLysSerTrpTyrPheThrGluAsnMetGluArgAsnCysArgAlaProCysAsnIleGlnMetGluAspProThrPheLysGluAsnTyrArgPheHisAlaIleAsnGlyTyrIleMetAspThrLeuProGlyLeuValMetAlaGlnAspGlnArgIleArgTrpTyrLeuLeuSerMetGlySerAsnGluAsnIleHisSerIleHisPheSerGlyHisValPheThrValArgLysLysGluGluTyrLysMetAlaLeuTyrAsnLeuTyrProGlyValPheGluThrValGluMetLeuProSerLysAlaGlyIleTrpArgValGluCysLeuIleGlyGluHisLeuHisAlaGlyMetSerThrLeuPheLeuValTyrSerAsnLysCysGlnThrProLeuGlyMetAlaSerGlyHisIleArgAspPheGlnIleThrAlaSerGlyGlnTyrGlyGlnTrpAlaProLysLeuAlaArgLeuHisTyrSerGlySerIleAsnAlaTrpSerThrLysGluProPheSerTrpIleLysValAspLeuLeuAlaProMetIleIleHisGlyIleLysThrGlnGlyAlaArgGlnLysPheSerSerLeuTyrIleSerGlnPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.5290C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.5290C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Gln1764Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Gln1764Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}