{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394820820",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.2023C>T (p.Gln675Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14041476C>T?assembly=hg19",
        "id": "chr16:g.14041476C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13947619C>T?assembly=hg38",
        "id": "chr16:g.13947619C>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 13947619,
          "referenceAllele": "C",
          "start": 13947618
        }
      ],
      "hgvs": [
        "NC_000016.10:g.13947619C>T",
        "CM000678.2:g.13947619C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 14041476,
          "referenceAllele": "C",
          "start": 14041475
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14041476C>T",
        "CM000678.1:g.14041476C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 13948977,
          "referenceAllele": "C",
          "start": 13948976
        }
      ],
      "hgvs": [
        "NC_000016.8:g.13948977C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32463,
          "referenceAllele": "C",
          "start": 32462
        }
      ],
      "hgvs": [
        "NG_011442.1:g.32463C>T",
        "LRG_463:g.32463C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2189,
          "referenceAllele": "C",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000682617.1:c.2161C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507912.1:p.Gln721Ter",
        "hgvsWellDefined": "ENSP00000507912.1:p.Gln721_Lys962delinsGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "referenceAllele": "C",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683962.1:c.*1717C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:n.*1717C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2035,
          "referenceAllele": "C",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.8:c.2023C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Gln675Ter",
        "hgvsWellDefined": "ENSP00000310520.7:p.Gln675_Lys916delinsGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2023C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2023C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Gln675Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Gln675Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.2023C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Gln675Ter",
        "hgvsWellDefined": "ENSP00000310520.7:p.Gln675_Lys916delinsGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000389138.7:n.1300C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 336,
          "referenceAllele": "C",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000462862.1:c.336C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461322.1:n.336C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.2023C>T",
        "LRG_463t1:c.2023C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Gln675Ter",
        "hgvsWellDefined": "NP_005227.1:p.Gln675_Lys916delinsGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "C",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.2161C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Gln721Ter",
        "hgvsWellDefined": "XP_011520726.1:p.Gln721_Lys962delinsGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2715,
          "referenceAllele": "C",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522425.1:c.1480C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520727.1:p.Gln494Ter",
        "hgvsWellDefined": "XP_011520727.1:p.Gln494_Lys735delinsGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522426.1:c.1234C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520728.1:p.Gln412Ter",
        "hgvsWellDefined": "XP_011520728.1:p.Gln412_Lys653delinsGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522427.1:c.673C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520729.1:p.Gln225Ter",
        "hgvsWellDefined": "XP_011520729.1:p.Gln225_Lys466delinsGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "C",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.2182C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2190,
          "referenceAllele": "C",
          "start": 2189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.2161C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Gln721Ter",
        "hgvsWellDefined": "XP_011520726.1:p.Gln721_Lys962delinsGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2154,
          "referenceAllele": "C",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.1234C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:p.Gln412Ter",
        "hgvsWellDefined": "XP_016878532.1:p.Gln412_Lys653delinsGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2035,
          "referenceAllele": "C",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.2023C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Gln675Ter",
        "hgvsWellDefined": "NP_005227.1:p.Gln675_Lys916delinsGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.2023C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.2023C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Gln675Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Gln675Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}