{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126615",
  "communityStandardTitle": [
    "NM_000129.4(F13A1):c.514C>T (p.Arg172Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3160071",
        "active": true,
        "id": "COSM3160071"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31564[alleleid]",
        "alleleId": 31564,
        "preferredName": "NM_000129.4(F13A1):c.514C>T (p.Arg172Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16525",
        "RCV": [
          "RCV000017989"
        ],
        "variationId": 16525
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-6266848-G-A",
        "id": "6-6266848-G-A",
        "variant": "6:6266848 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.6266848G>A?assembly=hg19",
        "id": "chr6:g.6266848G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.6266615G>A?assembly=hg38",
        "id": "chr6:g.6266615G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913065",
        "rs": 121913065
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-6266848-G-A?dataset=gnomad_r2_1",
        "id": "6-6266848-G-A",
        "variant": "6:6266848 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-6266615-G-A?dataset=gnomad_r4",
        "id": "6-6266615-G-A",
        "variant": "6:6266615 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 6266615,
          "referenceAllele": "G",
          "start": 6266614
        }
      ],
      "hgvs": [
        "NC_000006.12:g.6266615G>A",
        "CM000668.2:g.6266615G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 6266848,
          "referenceAllele": "G",
          "start": 6266847
        }
      ],
      "hgvs": [
        "NC_000006.11:g.6266848G>A",
        "CM000668.1:g.6266848G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 6211847,
          "referenceAllele": "G",
          "start": 6211846
        }
      ],
      "hgvs": [
        "NC_000006.10:g.6211847G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59077,
          "referenceAllele": "C",
          "start": 59076
        }
      ],
      "hgvs": [
        "NG_008107.1:g.59077C>T",
        "LRG_549:g.59077C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000852"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003531",
      "geneNCBI_id": 2162,
      "geneSymbol": "F13A1",
      "hgvs": [
        "ENST00000264870.8:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264870.3:p.Arg172Ter",
        "hgvsWellDefined": "ENSP00000264870.3:p.Arg172_Met732delinsThrSerArgAsnProGluThrAspThrTyrIleLeuPheAsnProTrpCysGluAspAspAlaValTyrLeuAspAsnGluLysGluArgGluGluTyrValLeuAsnAspIleGlyValIlePheTyrGlyGluValAsnAspIleLysThrArgSerTrpSerTyrGlyGlnPheGluAspGlyIleLeuAspThrCysLeuTyrValMetAspArgAlaGlnMetAspLeuSerGlyArgGlyAsnProIleLysValSerArgValGlySerAlaMetValAsnAlaLysAspAspGluGlyValLeuValGlySerTrpAspAsnIleTyrAlaTyrGlyValProProSerAlaTrpThrGlySerValAspIleLeuLeuGluTyrArgSerSerGluAsnProValArgTyrGlyGlnCysTrpValPheAlaGlyValPheAsnThrPheLeuArgCysLeuGlyIleProAlaArgIleValThrAsnTyrPheSerAlaHisAspAsnAspAlaAsnLeuGlnMetAspIlePheLeuGluGluAspGlyAsnValAsnSerLysLeuThrLysAspSerValTrpAsnTyrHisCysTrpAsnGluAlaTrpMetThrArgProAspLeuProValGlyPheGlyGlyTrpGlnAlaValAspSerThrProGlnGluAsnSerAspGlyMetTyrArgCysGlyProAlaSerValGlnAlaIleLysHisGlyHisValCysPheGlnPheAspAlaProPheValPheAlaGluValAsnSerAspLeuIleTyrIleThrAlaLysLysAspGlyThrHisValValGluAsnValAspAlaThrHisIleGlyLysLeuIleValThrLysGlnIleGlyGlyAspGlyMetMetAspIleThrAspThrTyrLysPheGlnGluGlyGlnGluGluGluArgLeuAlaLeuGluThrAlaLeuMetTyrGlyAlaLysLysProLeuAsnThrGluGlyValMetLysSerArgSerAsnValAspMetAspPheGluValGluAsnAlaValLeuGlyLysAspPheLysLeuSerIleThrPheArgAsnAsnSerHisAsnArgTyrThrIleThrAlaTyrLeuSerAlaAsnIleThrPheTyrThrGlyValProLysAlaGluPheLysLysGluThrPheAspValThrLeuGluProLeuSerPheLysLysGluAlaValLeuIleGlnAlaGlyGluTyrMetGlyGlnLeuLeuGluGlnAlaSerLeuHisPhePheValThrAlaArgIleAsnGluThrArgAspValLeuAlaLysGlnLysSerThrValLeuThrIleProGluIleIleIleLysValArgGlyThrGlnValValGlySerAspMetThrValThrValGluPheThrAsnProLeuLysGluThrLeuArgAsnValTrpValHisLeuAspGlyProGlyValThrArgProMetLysLysMetPheArgGluIleArgProAsnSerThrValGlnTrpGluGluValCysArgProTrpValSerGlyHisArgLysLeuIleAlaSerMetSerSerAspSerLeuArgHisValTyrGlyGluLeuAspValGlnIleGlnArgArgProSerMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264870.8:c.514C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000129.4:c.514C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264870.3:p.Arg172Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000120.2:p.Arg172Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "C",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003531",
      "geneNCBI_id": 2162,
      "geneSymbol": "F13A1",
      "hgvs": [
        "ENST00000264870.7:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264870.3:p.Arg172Ter",
        "hgvsWellDefined": "ENSP00000264870.3:p.Arg172_Met732delinsThrSerArgAsnProGluThrAspThrTyrIleLeuPheAsnProTrpCysGluAspAspAlaValTyrLeuAspAsnGluLysGluArgGluGluTyrValLeuAsnAspIleGlyValIlePheTyrGlyGluValAsnAspIleLysThrArgSerTrpSerTyrGlyGlnPheGluAspGlyIleLeuAspThrCysLeuTyrValMetAspArgAlaGlnMetAspLeuSerGlyArgGlyAsnProIleLysValSerArgValGlySerAlaMetValAsnAlaLysAspAspGluGlyValLeuValGlySerTrpAspAsnIleTyrAlaTyrGlyValProProSerAlaTrpThrGlySerValAspIleLeuLeuGluTyrArgSerSerGluAsnProValArgTyrGlyGlnCysTrpValPheAlaGlyValPheAsnThrPheLeuArgCysLeuGlyIleProAlaArgIleValThrAsnTyrPheSerAlaHisAspAsnAspAlaAsnLeuGlnMetAspIlePheLeuGluGluAspGlyAsnValAsnSerLysLeuThrLysAspSerValTrpAsnTyrHisCysTrpAsnGluAlaTrpMetThrArgProAspLeuProValGlyPheGlyGlyTrpGlnAlaValAspSerThrProGlnGluAsnSerAspGlyMetTyrArgCysGlyProAlaSerValGlnAlaIleLysHisGlyHisValCysPheGlnPheAspAlaProPheValPheAlaGluValAsnSerAspLeuIleTyrIleThrAlaLysLysAspGlyThrHisValValGluAsnValAspAlaThrHisIleGlyLysLeuIleValThrLysGlnIleGlyGlyAspGlyMetMetAspIleThrAspThrTyrLysPheGlnGluGlyGlnGluGluGluArgLeuAlaLeuGluThrAlaLeuMetTyrGlyAlaLysLysProLeuAsnThrGluGlyValMetLysSerArgSerAsnValAspMetAspPheGluValGluAsnAlaValLeuGlyLysAspPheLysLeuSerIleThrPheArgAsnAsnSerHisAsnArgTyrThrIleThrAlaTyrLeuSerAlaAsnIleThrPheTyrThrGlyValProLysAlaGluPheLysLysGluThrPheAspValThrLeuGluProLeuSerPheLysLysGluAlaValLeuIleGlnAlaGlyGluTyrMetGlyGlnLeuLeuGluGlnAlaSerLeuHisPhePheValThrAlaArgIleAsnGluThrArgAspValLeuAlaLysGlnLysSerThrValLeuThrIleProGluIleIleIleLysValArgGlyThrGlnValValGlySerAspMetThrValThrValGluPheThrAsnProLeuLysGluThrLeuArgAsnValTrpValHisLeuAspGlyProGlyValThrArgProMetLysLysMetPheArgGluIleArgProAsnSerThrValGlnTrpGluGluValCysArgProTrpValSerGlyHisArgLysLeuIleAlaSerMetSerSerAspSerLeuArgHisValTyrGlyGluLeuAspValGlnIleGlnArgArgProSerMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003531",
      "geneNCBI_id": 2162,
      "geneSymbol": "F13A1",
      "hgvs": [
        "ENST00000479211.1:n.499C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319646"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126617",
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003531",
      "geneNCBI_id": 2162,
      "geneSymbol": "F13A1",
      "hgvs": [
        "NM_000129.3:c.514C>T",
        "LRG_549t1:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000120.2:p.Arg172Ter",
        "hgvsWellDefined": "NP_000120.2:p.Arg172_Met732delinsThrSerArgAsnProGluThrAspThrTyrIleLeuPheAsnProTrpCysGluAspAspAlaValTyrLeuAspAsnGluLysGluArgGluGluTyrValLeuAsnAspIleGlyValIlePheTyrGlyGluValAsnAspIleLysThrArgSerTrpSerTyrGlyGlnPheGluAspGlyIleLeuAspThrCysLeuTyrValMetAspArgAlaGlnMetAspLeuSerGlyArgGlyAsnProIleLysValSerArgValGlySerAlaMetValAsnAlaLysAspAspGluGlyValLeuValGlySerTrpAspAsnIleTyrAlaTyrGlyValProProSerAlaTrpThrGlySerValAspIleLeuLeuGluTyrArgSerSerGluAsnProValArgTyrGlyGlnCysTrpValPheAlaGlyValPheAsnThrPheLeuArgCysLeuGlyIleProAlaArgIleValThrAsnTyrPheSerAlaHisAspAsnAspAlaAsnLeuGlnMetAspIlePheLeuGluGluAspGlyAsnValAsnSerLysLeuThrLysAspSerValTrpAsnTyrHisCysTrpAsnGluAlaTrpMetThrArgProAspLeuProValGlyPheGlyGlyTrpGlnAlaValAspSerThrProGlnGluAsnSerAspGlyMetTyrArgCysGlyProAlaSerValGlnAlaIleLysHisGlyHisValCysPheGlnPheAspAlaProPheValPheAlaGluValAsnSerAspLeuIleTyrIleThrAlaLysLysAspGlyThrHisValValGluAsnValAspAlaThrHisIleGlyLysLeuIleValThrLysGlnIleGlyGlyAspGlyMetMetAspIleThrAspThrTyrLysPheGlnGluGlyGlnGluGluGluArgLeuAlaLeuGluThrAlaLeuMetTyrGlyAlaLysLysProLeuAsnThrGluGlyValMetLysSerArgSerAsnValAspMetAspPheGluValGluAsnAlaValLeuGlyLysAspPheLysLeuSerIleThrPheArgAsnAsnSerHisAsnArgTyrThrIleThrAlaTyrLeuSerAlaAsnIleThrPheTyrThrGlyValProLysAlaGluPheLysLysGluThrPheAspValThrLeuGluProLeuSerPheLysLysGluAlaValLeuIleGlnAlaGlyGluTyrMetGlyGlnLeuLeuGluGlnAlaSerLeuHisPhePheValThrAlaArgIleAsnGluThrArgAspValLeuAlaLysGlnLysSerThrValLeuThrIleProGluIleIleIleLysValArgGlyThrGlnValValGlySerAspMetThrValThrValGluPheThrAsnProLeuLysGluThrLeuArgAsnValTrpValHisLeuAspGlyProGlyValThrArgProMetLysLysMetPheArgGluIleArgProAsnSerThrValGlnTrpGluGluValCysArgProTrpValSerGlyHisArgLysLeuIleAlaSerMetSerSerAspSerLeuArgHisValTyrGlyGluLeuAspValGlnIleGlnArgArgProSerMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003531",
      "geneNCBI_id": 2162,
      "geneSymbol": "F13A1",
      "hgvs": [
        "XM_006715010.2:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715073.1:p.Arg172Ter",
        "hgvsWellDefined": "XP_006715073.1:p.Arg172_Met732delinsThrSerArgAsnProGluThrAspThrTyrIleLeuPheAsnProTrpCysGluAspAspAlaValTyrLeuAspAsnGluLysGluArgGluGluTyrValLeuAsnAspIleGlyValIlePheTyrGlyGluValAsnAspIleLysThrArgSerTrpSerTyrGlyGlnPheGluAspGlyIleLeuAspThrCysLeuTyrValMetAspArgAlaGlnMetAspLeuSerGlyArgGlyAsnProIleLysValSerArgValGlySerAlaMetValAsnAlaLysAspAspGluGlyValLeuValGlySerTrpAspAsnIleTyrAlaTyrGlyValProProSerAlaTrpThrGlySerValAspIleLeuLeuGluTyrArgSerSerGluAsnProValArgTyrGlyGlnCysTrpValPheAlaGlyValPheAsnThrPheLeuArgCysLeuGlyIleProAlaArgIleValThrAsnTyrPheSerAlaHisAspAsnAspAlaAsnLeuGlnMetAspIlePheLeuGluGluAspGlyAsnValAsnSerLysLeuThrLysAspSerValTrpAsnTyrHisCysTrpAsnGluAlaTrpMetThrArgProAspLeuProValGlyPheGlyGlyTrpGlnAlaValAspSerThrProGlnGluAsnSerAspGlyMetTyrArgCysGlyProAlaSerValGlnAlaIleLysHisGlyHisValCysPheGlnPheAspAlaProPheValPheAlaGluValAsnSerAspLeuIleTyrIleThrAlaLysLysAspGlyThrHisValValGluAsnValAspAlaThrHisIleGlyLysLeuIleValThrLysGlnIleGlyGlyAspGlyMetMetAspIleThrAspThrTyrLysPheGlnGluGlyGlnGluGluGluArgLeuAlaLeuGluThrAlaLeuMetTyrGlyAlaLysLysProLeuAsnThrGluGlyValMetLysSerArgSerAsnValAspMetAspPheGluValGluAsnAlaValLeuGlyLysAspPheLysLeuSerIleThrPheArgAsnAsnSerHisAsnArgTyrThrIleThrAlaTyrLeuSerAlaAsnIleThrPheTyrThrGlyValProLysAlaGluPheLysLysGluThrPheAspValThrLeuGluProLeuSerPheLysLysGluAlaValLeuIleGlnAlaGlyGluTyrMetGlyGlnLeuLeuGluGlnAlaSerLeuHisPhePheValThrAlaArgIleAsnGluThrArgAspValLeuAlaLysGlnLysSerThrValLeuThrIleProGluIleIleIleLysValArgGlyThrGlnValValGlySerAspMetThrValThrValGluPheThrAsnProLeuLysGluThrLeuArgAsnValTrpValHisLeuAspGlyProGlyValThrArgProMetLysLysMetPheArgGluIleArgProAsnSerThrValGlnTrpGluGluValCysArgProTrpValSerGlyHisArgLysLeuIleAlaSerMetSerSerAspSerLeuArgHisValTyrGlyGluLeuAspValGlnIleGlnArgArgProSerMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003531",
      "geneNCBI_id": 2162,
      "geneSymbol": "F13A1",
      "hgvs": [
        "XM_011514342.1:c.676C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512644.1:p.Arg226Ter",
        "hgvsWellDefined": "XP_011512644.1:p.Arg226_Met786delinsThrSerArgAsnProGluThrAspThrTyrIleLeuPheAsnProTrpCysGluAspAspAlaValTyrLeuAspAsnGluLysGluArgGluGluTyrValLeuAsnAspIleGlyValIlePheTyrGlyGluValAsnAspIleLysThrArgSerTrpSerTyrGlyGlnPheGluAspGlyIleLeuAspThrCysLeuTyrValMetAspArgAlaGlnMetAspLeuSerGlyArgGlyAsnProIleLysValSerArgValGlySerAlaMetValAsnAlaLysAspAspGluGlyValLeuValGlySerTrpAspAsnIleTyrAlaTyrGlyValProProSerAlaTrpThrGlySerValAspIleLeuLeuGluTyrArgSerSerGluAsnProValArgTyrGlyGlnCysTrpValPheAlaGlyValPheAsnThrPheLeuArgCysLeuGlyIleProAlaArgIleValThrAsnTyrPheSerAlaHisAspAsnAspAlaAsnLeuGlnMetAspIlePheLeuGluGluAspGlyAsnValAsnSerLysLeuThrLysAspSerValTrpAsnTyrHisCysTrpAsnGluAlaTrpMetThrArgProAspLeuProValGlyPheGlyGlyTrpGlnAlaValAspSerThrProGlnGluAsnSerAspGlyMetTyrArgCysGlyProAlaSerValGlnAlaIleLysHisGlyHisValCysPheGlnPheAspAlaProPheValPheAlaGluValAsnSerAspLeuIleTyrIleThrAlaLysLysAspGlyThrHisValValGluAsnValAspAlaThrHisIleGlyLysLeuIleValThrLysGlnIleGlyGlyAspGlyMetMetAspIleThrAspThrTyrLysPheGlnGluGlyGlnGluGluGluArgLeuAlaLeuGluThrAlaLeuMetTyrGlyAlaLysLysProLeuAsnThrGluGlyValMetLysSerArgSerAsnValAspMetAspPheGluValGluAsnAlaValLeuGlyLysAspPheLysLeuSerIleThrPheArgAsnAsnSerHisAsnArgTyrThrIleThrAlaTyrLeuSerAlaAsnIleThrPheTyrThrGlyValProLysAlaGluPheLysLysGluThrPheAspValThrLeuGluProLeuSerPheLysLysGluAlaValLeuIleGlnAlaGlyGluTyrMetGlyGlnLeuLeuGluGlnAlaSerLeuHisPhePheValThrAlaArgIleAsnGluThrArgAspValLeuAlaLysGlnLysSerThrValLeuThrIleProGluIleIleIleLysValArgGlyThrGlnValValGlySerAspMetThrValThrValGluPheThrAsnProLeuLysGluThrLeuArgAsnValTrpValHisLeuAspGlyProGlyValThrArgProMetLysLysMetPheArgGluIleArgProAsnSerThrValGlnTrpGluGluValCysArgProTrpValSerGlyHisArgLysLeuIleAlaSerMetSerSerAspSerLeuArgHisValTyrGlyGluLeuAspValGlnIleGlnArgArgProSerMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126617",
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003531",
      "geneNCBI_id": 2162,
      "geneSymbol": "F13A1",
      "hgvs": [
        "NM_000129.4:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000120.2:p.Arg172Ter",
        "hgvsWellDefined": "NP_000120.2:p.Arg172_Met732delinsThrSerArgAsnProGluThrAspThrTyrIleLeuPheAsnProTrpCysGluAspAspAlaValTyrLeuAspAsnGluLysGluArgGluGluTyrValLeuAsnAspIleGlyValIlePheTyrGlyGluValAsnAspIleLysThrArgSerTrpSerTyrGlyGlnPheGluAspGlyIleLeuAspThrCysLeuTyrValMetAspArgAlaGlnMetAspLeuSerGlyArgGlyAsnProIleLysValSerArgValGlySerAlaMetValAsnAlaLysAspAspGluGlyValLeuValGlySerTrpAspAsnIleTyrAlaTyrGlyValProProSerAlaTrpThrGlySerValAspIleLeuLeuGluTyrArgSerSerGluAsnProValArgTyrGlyGlnCysTrpValPheAlaGlyValPheAsnThrPheLeuArgCysLeuGlyIleProAlaArgIleValThrAsnTyrPheSerAlaHisAspAsnAspAlaAsnLeuGlnMetAspIlePheLeuGluGluAspGlyAsnValAsnSerLysLeuThrLysAspSerValTrpAsnTyrHisCysTrpAsnGluAlaTrpMetThrArgProAspLeuProValGlyPheGlyGlyTrpGlnAlaValAspSerThrProGlnGluAsnSerAspGlyMetTyrArgCysGlyProAlaSerValGlnAlaIleLysHisGlyHisValCysPheGlnPheAspAlaProPheValPheAlaGluValAsnSerAspLeuIleTyrIleThrAlaLysLysAspGlyThrHisValValGluAsnValAspAlaThrHisIleGlyLysLeuIleValThrLysGlnIleGlyGlyAspGlyMetMetAspIleThrAspThrTyrLysPheGlnGluGlyGlnGluGluGluArgLeuAlaLeuGluThrAlaLeuMetTyrGlyAlaLysLysProLeuAsnThrGluGlyValMetLysSerArgSerAsnValAspMetAspPheGluValGluAsnAlaValLeuGlyLysAspPheLysLeuSerIleThrPheArgAsnAsnSerHisAsnArgTyrThrIleThrAlaTyrLeuSerAlaAsnIleThrPheTyrThrGlyValProLysAlaGluPheLysLysGluThrPheAspValThrLeuGluProLeuSerPheLysLysGluAlaValLeuIleGlnAlaGlyGluTyrMetGlyGlnLeuLeuGluGlnAlaSerLeuHisPhePheValThrAlaArgIleAsnGluThrArgAspValLeuAlaLysGlnLysSerThrValLeuThrIleProGluIleIleIleLysValArgGlyThrGlnValValGlySerAspMetThrValThrValGluPheThrAsnProLeuLysGluThrLeuArgAsnValTrpValHisLeuAspGlyProGlyValThrArgProMetLysLysMetPheArgGluIleArgProAsnSerThrValGlnTrpGluGluValCysArgProTrpValSerGlyHisArgLysLeuIleAlaSerMetSerSerAspSerLeuArgHisValTyrGlyGluLeuAspValGlnIleGlnArgArgProSerMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674716",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264870.8:c.514C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000129.4:c.514C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264870.3:p.Arg172Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000120.2:p.Arg172Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}