{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386302672",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.1186G>T (p.Glu396Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1414859[alleleid]",
        "alleleId": 1414859,
        "preferredName": "NM_024312.5(GNPTAB):c.1186G>T (p.Glu396Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1396985",
        "RCV": [
          "RCV001903278"
        ],
        "variationId": 1396985
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102163897C>A?assembly=hg19",
        "id": "chr12:g.102163897C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101770119C>A?assembly=hg38",
        "id": "chr12:g.101770119C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1245543262",
        "rs": 1245543262
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101770119,
          "referenceAllele": "C",
          "start": 101770118
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101770119C>A",
        "CM000674.2:g.101770119C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102163897,
          "referenceAllele": "C",
          "start": 102163896
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102163897C>A",
        "CM000674.1:g.102163897C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 100688028,
          "referenceAllele": "C",
          "start": 100688027
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100688028C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65749,
          "referenceAllele": "G",
          "start": 65748
        }
      ],
      "hgvs": [
        "NG_021243.1:g.65749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1470,
          "referenceAllele": "G",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.1186G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Glu396Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Glu396_Val1256delinsGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1186G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1186G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Glu396Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Glu396Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.1186G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Glu396Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Glu396_Val1256delinsGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "G",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549940.5:c.1186G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449150.1:p.Glu396Ter",
        "hgvsWellDefined": "ENSP00000449150.1:p.Glu396_Tyr490delinsGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyLysAspValLeuAsnCysAsnSerPheIlePheMetGluTyrPheLeuLeuAsnHisTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573286192",
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.1186G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Glu396Ter",
        "hgvsWellDefined": "NP_077288.2:p.Glu396_Val1256delinsGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.1186G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Glu396Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Glu396_Asp1179delinsGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.1105G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Glu369Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Glu369_Val1229delinsGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "G",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.1186G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Glu396Ter",
        "hgvsWellDefined": "XP_006719656.1:p.Glu396_Asp1179delinsGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgIleSerLeuCysCysProSerTrpAsnAlaValMetGlnThrTrpLeuThrValAlaSerThrSerTrpAlaGlnAlaIleLeuProProGlnProProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "referenceAllele": "G",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.1105G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Glu369Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Glu369_Val1229delinsGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1275,
          "referenceAllele": "G",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.970G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Glu324Ter",
        "hgvsWellDefined": "XP_016875450.1:p.Glu324_Val1184delinsGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573286192",
      "coordinates": [
        {
          "allele": "T",
          "end": 1470,
          "referenceAllele": "G",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.1186G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Glu396Ter",
        "hgvsWellDefined": "NP_077288.2:p.Glu396_Val1256delinsGlyLeuSerGlnLysPheIleTyrLeuAsnAspAspValMetPheGlyLysAspValTrpProAspAspPheTyrSerHisSerLysGlyGlnLysValTyrLeuThrTrpProValProAsnCysAlaGluGlyCysProGlySerTrpIleLysAspGlyTyrCysAspLysAlaCysAsnAsnSerAlaCysAspTrpAspGlyGlyAspCysSerGlyAsnSerGlyGlySerArgTyrIleAlaGlyGlyGlyGlyThrGlySerIleGlyValGlyGlnProTrpGlnPheGlyGlyGlyIleAsnSerValSerTyrCysAsnGlnGlyCysAlaAsnSerTrpLeuAlaAspLysPheCysAspGlnAlaCysAsnValLeuSerCysGlyPheAspAlaGlyAspCysGlyGlnAspHisPheHisGluLeuTyrLysValIleLeuLeuProAsnGlnThrHisTyrIleIleProLysGlyGluCysLeuProTyrPheSerPheAlaGluValAlaLysArgGlyValGluGlyAlaTyrSerAspAsnProIleIleArgHisAlaSerIleAlaAsnLysTrpLysThrIleHisLeuIleMetHisSerGlyMetAsnAlaThrThrIleHisPheAsnLeuThrPheGlnAsnThrAsnAspGluGluPheLysMetGlnIleThrValGluValAspThrArgGluGlyProLysLeuAsnSerThrAlaGlnLysGlyTyrGluAsnLeuValSerProIleThrLeuLeuProGluAlaGluIleLeuPheGluAspIleProLysGluLysArgPheProLysPheLysArgHisAspValAsnSerThrArgArgAlaGlnGluGluValLysIleProLeuValAsnIleSerLeuLeuProLysAspAlaGlnLeuSerLeuAsnThrLeuAspLeuGlnLeuGluHisGlyAspIleThrLeuLysGlyTyrAsnLeuSerLysSerAlaLeuLeuArgSerPheLeuMetAsnSerGlnHisAlaLysIleLysAsnGlnAlaIleIleThrAspGluThrAsnAspSerLeuValAlaProGlnGluLysGlnValHisLysSerIleLeuProAsnSerLeuGlyValSerGluArgLeuGlnArgLeuThrPheProAlaValSerValLysValAsnGlyHisAspGlnGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1186G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1186G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Glu396Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Glu396Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}