{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343137915",
  "communityStandardTitle": [
    "NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3067045[alleleid]",
        "alleleId": 3067045,
        "preferredName": "NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2896365",
        "RCV": [
          "RCV003764253"
        ],
        "variationId": 2896365
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169505854G>A?assembly=hg19",
        "id": "chr1:g.169505854G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169536616G>A?assembly=hg38",
        "id": "chr1:g.169536616G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2526378815",
        "rs": 2526378815
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169536616-G-A?dataset=gnomad_r4",
        "id": "1-169536616-G-A",
        "variant": "1:169536616 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 169536616,
          "referenceAllele": "G",
          "start": 169536615
        }
      ],
      "hgvs": [
        "NC_000001.11:g.169536616G>A",
        "CM000663.2:g.169536616G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 169505854,
          "referenceAllele": "G",
          "start": 169505853
        }
      ],
      "hgvs": [
        "NC_000001.10:g.169505854G>A",
        "CM000663.1:g.169505854G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 167772478,
          "referenceAllele": "G",
          "start": 167772477
        }
      ],
      "hgvs": [
        "NC_000001.9:g.167772478G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54916,
          "referenceAllele": "C",
          "start": 54915
        }
      ],
      "hgvs": [
        "NG_011806.1:g.54916C>T",
        "LRG_553:g.54916C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001989"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4956,
          "referenceAllele": "C",
          "start": 4955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.9:c.4861C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:p.Arg1621Ter",
        "hgvsWellDefined": "ENSP00000356771.3:p.Arg1621_Tyr2224delinsLysTyrLeuAspSerThrPheThrLysArgAspProArgGlyGluTyrGluGluHisLeuGlyIleLeuGlyProIleIleArgAlaGluValAspAspValIleGlnValArgPheLysAsnLeuAlaSerArgProTyrSerLeuHisAlaHisGlyLeuSerTyrGluLysSerSerGluGlyLysThrTyrGluAspAspSerProGluTrpPheLysGluAspAsnAlaValGlnProAsnSerSerTyrThrTyrValTrpHisAlaThrGluArgSerGlyProGluSerProGlySerAlaCysArgAlaTrpAlaTyrTyrSerAlaValAsnProGluLysAspIleHisSerGlyLeuIleGlyProLeuLeuIleCysGlnLysGlyIleLeuHisLysAspSerAsnMetProMetAspMetArgGluPheValLeuLeuPheMetThrPheAspGluLysLysSerTrpTyrTyrGluLysLysSerArgSerSerTrpArgLeuThrSerSerGluMetLysLysSerHisGluPheHisAlaIleAsnGlyMetIleTyrSerLeuProGlyLeuLysMetTyrGluGlnGluTrpValArgLeuHisLeuLeuAsnIleGlyGlySerGlnAspIleHisValValHisPheHisGlyGlnThrLeuLeuGluAsnGlyAsnLysGlnHisGlnLeuGlyValTrpProLeuLeuProGlySerPheLysThrLeuGluMetLysAlaSerLysProGlyTrpTrpLeuLeuAsnThrGluValGlyGluAsnGlnArgAlaGlyMetGlnThrProPheLeuIleMetAspArgAspCysArgMetProMetGlyLeuSerThrGlyIleIleSerAspSerGlnIleLysAlaSerGluPheLeuGlyTyrTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.4861C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.4861C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:p.Arg1621Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:p.Arg1621Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5078,
          "referenceAllele": "C",
          "start": 5077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367796.3:c.4876C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356770.3:p.Arg1626Ter",
        "hgvsWellDefined": "ENSP00000356770.3:p.Arg1626_Tyr2229delinsLysTyrLeuAspSerThrPheThrLysArgAspProArgGlyGluTyrGluGluHisLeuGlyIleLeuGlyProIleIleArgAlaGluValAspAspValIleGlnValArgPheLysAsnLeuAlaSerArgProTyrSerLeuHisAlaHisGlyLeuSerTyrGluLysSerSerGluGlyLysThrTyrGluAspAspSerProGluTrpPheLysGluAspAsnAlaValGlnProAsnSerSerTyrThrTyrValTrpHisAlaThrGluArgSerGlyProGluSerProGlySerAlaCysArgAlaTrpAlaTyrTyrSerAlaValAsnProGluLysAspIleHisSerGlyLeuIleGlyProLeuLeuIleCysGlnLysGlyIleLeuHisLysAspSerAsnMetProMetAspMetArgGluPheValLeuLeuPheMetThrPheAspGluLysLysSerTrpTyrTyrGluLysLysSerArgSerSerTrpArgLeuThrSerSerGluMetLysLysSerHisGluPheHisAlaIleAsnGlyMetIleTyrSerLeuProGlyLeuLysMetTyrGluGlnGluTrpValArgLeuHisLeuLeuAsnIleGlyGlySerGlnAspIleHisValValHisPheHisGlyGlnThrLeuLeuGluAsnGlyAsnLysGlnHisGlnLeuGlyValTrpProLeuLeuProGlySerPheLysThrLeuGluMetLysAlaSerLysProGlyTrpTrpLeuLeuAsnThrGluValGlyGluAsnGlnArgAlaGlyMetGlnThrProPheLeuIleMetAspArgAspCysArgMetProMetGlyLeuSerThrGlyIleIleSerAspSerGlnIleLysAlaSerGluPheLeuGlyTyrTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5063,
          "referenceAllele": "C",
          "start": 5062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "ENST00000367797.7:c.4861C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356771.3:p.Arg1621Ter",
        "hgvsWellDefined": "ENSP00000356771.3:p.Arg1621_Tyr2224delinsLysTyrLeuAspSerThrPheThrLysArgAspProArgGlyGluTyrGluGluHisLeuGlyIleLeuGlyProIleIleArgAlaGluValAspAspValIleGlnValArgPheLysAsnLeuAlaSerArgProTyrSerLeuHisAlaHisGlyLeuSerTyrGluLysSerSerGluGlyLysThrTyrGluAspAspSerProGluTrpPheLysGluAspAsnAlaValGlnProAsnSerSerTyrThrTyrValTrpHisAlaThrGluArgSerGlyProGluSerProGlySerAlaCysArgAlaTrpAlaTyrTyrSerAlaValAsnProGluLysAspIleHisSerGlyLeuIleGlyProLeuLeuIleCysGlnLysGlyIleLeuHisLysAspSerAsnMetProMetAspMetArgGluPheValLeuLeuPheMetThrPheAspGluLysLysSerTrpTyrTyrGluLysLysSerArgSerSerTrpArgLeuThrSerSerGluMetLysLysSerHisGluPheHisAlaIleAsnGlyMetIleTyrSerLeuProGlyLeuLysMetTyrGluGlnGluTrpValArgLeuHisLeuLeuAsnIleGlyGlySerGlnAspIleHisValValHisPheHisGlyGlnThrLeuLeuGluAsnGlyAsnLysGlnHisGlnLeuGlyValTrpProLeuLeuProGlySerPheLysThrLeuGluMetLysAlaSerLysProGlyTrpTrpLeuLeuAsnThrGluValGlyGluAsnGlnArgAlaGlyMetGlnThrProPheLeuIleMetAspArgAspCysArgMetProMetGlyLeuSerThrGlyIleIleSerAspSerGlnIleLysAlaSerGluPheLeuGlyTyrTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741810241",
      "coordinates": [
        {
          "allele": "T",
          "end": 5006,
          "referenceAllele": "C",
          "start": 5005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.4:c.4861C>T",
        "LRG_553t1:c.4861C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:p.Arg1621Ter",
        "hgvsWellDefined": "NP_000121.2:p.Arg1621_Tyr2224delinsLysTyrLeuAspSerThrPheThrLysArgAspProArgGlyGluTyrGluGluHisLeuGlyIleLeuGlyProIleIleArgAlaGluValAspAspValIleGlnValArgPheLysAsnLeuAlaSerArgProTyrSerLeuHisAlaHisGlyLeuSerTyrGluLysSerSerGluGlyLysThrTyrGluAspAspSerProGluTrpPheLysGluAspAsnAlaValGlnProAsnSerSerTyrThrTyrValTrpHisAlaThrGluArgSerGlyProGluSerProGlySerAlaCysArgAlaTrpAlaTyrTyrSerAlaValAsnProGluLysAspIleHisSerGlyLeuIleGlyProLeuLeuIleCysGlnLysGlyIleLeuHisLysAspSerAsnMetProMetAspMetArgGluPheValLeuLeuPheMetThrPheAspGluLysLysSerTrpTyrTyrGluLysLysSerArgSerSerTrpArgLeuThrSerSerGluMetLysLysSerHisGluPheHisAlaIleAsnGlyMetIleTyrSerLeuProGlyLeuLysMetTyrGluGlnGluTrpValArgLeuHisLeuLeuAsnIleGlyGlySerGlnAspIleHisValValHisPheHisGlyGlnThrLeuLeuGluAsnGlyAsnLysGlnHisGlnLeuGlyValTrpProLeuLeuProGlySerPheLysThrLeuGluMetLysAlaSerLysProGlyTrpTrpLeuLeuAsnThrGluValGlyGluAsnGlnArgAlaGlyMetGlnThrProPheLeuIleMetAspArgAspCysArgMetProMetGlyLeuSerThrGlyIleIleSerAspSerGlnIleLysAlaSerGluPheLeuGlyTyrTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5013,
          "referenceAllele": "C",
          "start": 5012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "XM_017000660.2:c.4450C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856149.1:p.Arg1484Ter",
        "hgvsWellDefined": "XP_016856149.1:p.Arg1484_Tyr2087delinsLysTyrLeuAspSerThrPheThrLysArgAspProArgGlyGluTyrGluGluHisLeuGlyIleLeuGlyProIleIleArgAlaGluValAspAspValIleGlnValArgPheLysAsnLeuAlaSerArgProTyrSerLeuHisAlaHisGlyLeuSerTyrGluLysSerSerGluGlyLysThrTyrGluAspAspSerProGluTrpPheLysGluAspAsnAlaValGlnProAsnSerSerTyrThrTyrValTrpHisAlaThrGluArgSerGlyProGluSerProGlySerAlaCysArgAlaTrpAlaTyrTyrSerAlaValAsnProGluLysAspIleHisSerGlyLeuIleGlyProLeuLeuIleCysGlnLysGlyIleLeuHisLysAspSerAsnMetProMetAspMetArgGluPheValLeuLeuPheMetThrPheAspGluLysLysSerTrpTyrTyrGluLysLysSerArgSerSerTrpArgLeuThrSerSerGluMetLysLysSerHisGluPheHisAlaIleAsnGlyMetIleTyrSerLeuProGlyLeuLysMetTyrGluGlnGluTrpValArgLeuHisLeuLeuAsnIleGlyGlySerGlnAspIleHisValValHisPheHisGlyGlnThrLeuLeuGluAsnGlyAsnLysGlnHisGlnLeuGlyValTrpProLeuLeuProGlySerPheLysThrLeuGluMetLysAlaSerLysProGlyTrpTrpLeuLeuAsnThrGluValGlyGluAsnGlnArgAlaGlyMetGlnThrProPheLeuIleMetAspArgAspCysArgMetProMetGlyLeuSerThrGlyIleIleSerAspSerGlnIleLysAlaSerGluPheLeuGlyTyrTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741810241",
      "coordinates": [
        {
          "allele": "T",
          "end": 4956,
          "referenceAllele": "C",
          "start": 4955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003542",
      "geneNCBI_id": 2153,
      "geneSymbol": "F5",
      "hgvs": [
        "NM_000130.5:c.4861C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000121.2:p.Arg1621Ter",
        "hgvsWellDefined": "NP_000121.2:p.Arg1621_Tyr2224delinsLysTyrLeuAspSerThrPheThrLysArgAspProArgGlyGluTyrGluGluHisLeuGlyIleLeuGlyProIleIleArgAlaGluValAspAspValIleGlnValArgPheLysAsnLeuAlaSerArgProTyrSerLeuHisAlaHisGlyLeuSerTyrGluLysSerSerGluGlyLysThrTyrGluAspAspSerProGluTrpPheLysGluAspAsnAlaValGlnProAsnSerSerTyrThrTyrValTrpHisAlaThrGluArgSerGlyProGluSerProGlySerAlaCysArgAlaTrpAlaTyrTyrSerAlaValAsnProGluLysAspIleHisSerGlyLeuIleGlyProLeuLeuIleCysGlnLysGlyIleLeuHisLysAspSerAsnMetProMetAspMetArgGluPheValLeuLeuPheMetThrPheAspGluLysLysSerTrpTyrTyrGluLysLysSerArgSerSerTrpArgLeuThrSerSerGluMetLysLysSerHisGluPheHisAlaIleAsnGlyMetIleTyrSerLeuProGlyLeuLysMetTyrGluGlnGluTrpValArgLeuHisLeuLeuAsnIleGlyGlySerGlnAspIleHisValValHisPheHisGlyGlnThrLeuLeuGluAsnGlyAsnLysGlnHisGlnLeuGlyValTrpProLeuLeuProGlySerPheLysThrLeuGluMetLysAlaSerLysProGlyTrpTrpLeuLeuAsnThrGluValGlyGluAsnGlnArgAlaGlyMetGlnThrProPheLeuIleMetAspArgAspCysArgMetProMetGlyLeuSerThrGlyIleIleSerAspSerGlnIleLysAlaSerGluPheLeuGlyTyrTrpGluProArgLeuAlaArgLeuAsnAsnGlyGlySerTyrAsnAlaTrpSerValGluLysLeuAlaAlaGluPheAlaSerLysProTrpIleGlnValAspMetGlnLysGluValIleIleThrGlyIleGlnThrGlnGlyAlaLysHisTyrLeuLysSerCysTyrThrThrGluPheTyrValAlaTyrSerSerAsnGlnIleAsnTrpGlnIlePheLysGlyAsnSerThrArgAsnValMetTyrPheAsnGlyAsnSerAspAlaSerThrIleLysGluAsnGlnPheAspProProIleValAlaArgTyrIleArgIleSerProThrArgAlaTyrAsnArgProThrLeuArgLeuGluLeuGlnGlyCysGluValAsnGlyCysSerThrProLeuGlyMetGluAsnGlyLysIleGluAsnLysGlnIleThrAlaSerSerPheLysLysSerTrpTrpGlyAspTyrTrpGluProPheArgAlaArgLeuAsnAlaGlnGlyArgValAsnAlaTrpGlnAlaLysAlaAsnAsnAsnLysGlnTrpLeuGluIleAspLeuLeuLysIleLysLysIleThrAlaIleIleThrGlnGlyCysLysSerLeuSerSerGluMetTyrValLysSerTyrThrIleHisTyrSerGluGlnGlyValGluTrpLysProTyrArgLeuLysSerSerMetValAspLysIlePheGluGlyAsnThrAsnThrLysGlyHisValLysAsnPhePheAsnProProIleIleSerArgPheIleArgValIleProLysThrTrpAsnGlnSerIleAlaLeuArgLeuGluLeuPheGlyCysAspIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674717",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367797.9:c.4861C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000130.5:c.4861C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356771.3:p.Arg1621Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000121.2:p.Arg1621Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}