{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA015507",
  "communityStandardTitle": [
    "NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=677083",
        "active": true,
        "id": "COSM677083"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152477[alleleid]",
        "alleleId": 152477,
        "preferredName": "NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142763",
        "RCV": [
          "RCV000132150",
          "RCV000228450",
          "RCV000183224",
          "RCV000505277",
          "RCV000660253",
          "RCV004554715",
          "RCV003474784"
        ],
        "variationId": 142763
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-17371320-G-A",
        "id": "1-17371320-G-A",
        "variant": "1:17371320 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17371320G>A?assembly=hg19",
        "id": "chr1:g.17371320G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17044825G>A?assembly=hg38",
        "id": "chr1:g.17044825G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315370",
        "rs": 74315370
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17371320-G-A?dataset=gnomad_r2_1",
        "id": "1-17371320-G-A",
        "variant": "1:17371320 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17044825-G-A?dataset=gnomad_r3",
        "id": "1-17044825-G-A",
        "variant": "1:17044825 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17044825-G-A?dataset=gnomad_r4",
        "id": "1-17044825-G-A",
        "variant": "1:17044825 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 17044825,
          "referenceAllele": "G",
          "start": 17044824
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17044825G>A",
        "CM000663.2:g.17044825G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 17371320,
          "referenceAllele": "G",
          "start": 17371319
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17371320G>A",
        "CM000663.1:g.17371320G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 17243907,
          "referenceAllele": "G",
          "start": 17243906
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17243907G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14346,
          "referenceAllele": "C",
          "start": 14345
        }
      ],
      "hgvs": [
        "NG_012340.1:g.14346C>T",
        "LRG_316:g.14346C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002378"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "referenceAllele": "C",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000463045.3:c.-36C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481376.2:n.-36C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "referenceAllele": "C",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000491274.6:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480482.2:p.Arg32Ter",
        "hgvsWellDefined": "ENSP00000480482.2:p.Arg32_Val266delinsTrpAspProAspLysAlaGlyAspLysProHisMetGlnThrTyrGluValAspLeuAsnLysCysGlyProMetValLeuAspAlaLeuIleLysIleLysAsnGluValAspSerThrLeuThrPheArgArgSerCysArgGluGlyIleCysGlySerCysAlaMetAsnIleAsnGlyGlyAsnThrLeuAlaCysThrArgArgIleAspThrAsnLeuAsnLysValSerLysIleTyrProLeuProHisMetTyrValIleLysAspLeuValProAspLeuSerAsnPheTyrAlaGlnTyrLysSerIleGluProTyrLeuLysLysLysAspGluSerGlnGluGlyLysGlnGlnTyrLeuGlnSerIleGluGluArgGluLysLeuAspGlyLeuTyrGluCysIleLeuCysAlaCysCysSerThrSerCysProSerTyrTrpTrpAsnGlyAspLysTyrLeuGlyProAlaValLeuMetGlnAlaTyrArgTrpMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000375499.8:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364649.3:p.Arg46Ter",
        "hgvsWellDefined": "ENSP00000364649.3:p.Arg46_Val280delinsTrpAspProAspLysAlaGlyAspLysProHisMetGlnThrTyrGluValAspLeuAsnLysCysGlyProMetValLeuAspAlaLeuIleLysIleLysAsnGluValAspSerThrLeuThrPheArgArgSerCysArgGluGlyIleCysGlySerCysAlaMetAsnIleAsnGlyGlyAsnThrLeuAlaCysThrArgArgIleAspThrAsnLeuAsnLysValSerLysIleTyrProLeuProHisMetTyrValIleLysAspLeuValProAspLeuSerAsnPheTyrAlaGlnTyrLysSerIleGluProTyrLeuLysLysLysAspGluSerGlnGluGlyLysGlnGlnTyrLeuGlnSerIleGluGluArgGluLysLeuAspGlyLeuTyrGluCysIleLeuCysAlaCysCysSerThrSerCysProSerTyrTrpTrpAsnGlyAspLysTyrLeuGlyProAlaValLeuMetGlnAlaTyrArgTrpMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751624",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375499.8:c.136C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003000.3:c.136C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364649.3:p.Arg46Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002991.2:p.Arg46Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000375499.7:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364649.3:p.Arg46Ter",
        "hgvsWellDefined": "ENSP00000364649.3:p.Arg46_Val280delinsTrpAspProAspLysAlaGlyAspLysProHisMetGlnThrTyrGluValAspLeuAsnLysCysGlyProMetValLeuAspAlaLeuIleLysIleLysAsnGluValAspSerThrLeuThrPheArgArgSerCysArgGluGlyIleCysGlySerCysAlaMetAsnIleAsnGlyGlyAsnThrLeuAlaCysThrArgArgIleAspThrAsnLeuAsnLysValSerLysIleTyrProLeuProHisMetTyrValIleLysAspLeuValProAspLeuSerAsnPheTyrAlaGlnTyrLysSerIleGluProTyrLeuLysLysLysAspGluSerGlnGluGlyLysGlnGlnTyrLeuGlnSerIleGluGluArgGluLysLeuAspGlyLeuTyrGluCysIleLeuCysAlaCysCysSerThrSerCysProSerTyrTrpTrpAsnGlyAspLysTyrLeuGlyProAlaValLeuMetGlnAlaTyrArgTrpMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "referenceAllele": "C",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000463045.2:c.-36C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481376.1:n.-36C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000466613.2:n.148C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53,
          "referenceAllele": "C",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000475506.1:n.53C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "referenceAllele": "C",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000485515.5:n.124C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 143,
          "referenceAllele": "C",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "ENST00000491274.5:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480482.1:p.Arg32Ter",
        "hgvsWellDefined": "ENSP00000480482.1:p.Arg32_Gln200del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328910"
    },
    {
      "@id": "http://reg.genome.network/allele/PA169354",
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "NM_003000.2:c.136C>T",
        "LRG_316t1:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002991.2:p.Arg46Ter",
        "hgvsWellDefined": "NP_002991.2:p.Arg46_Val280delinsTrpAspProAspLysAlaGlyAspLysProHisMetGlnThrTyrGluValAspLeuAsnLysCysGlyProMetValLeuAspAlaLeuIleLysIleLysAsnGluValAspSerThrLeuThrPheArgArgSerCysArgGluGlyIleCysGlySerCysAlaMetAsnIleAsnGlyGlyAsnThrLeuAlaCysThrArgArgIleAspThrAsnLeuAsnLysValSerLysIleTyrProLeuProHisMetTyrValIleLysAspLeuValProAspLeuSerAsnPheTyrAlaGlnTyrLysSerIleGluProTyrLeuLysLysLysAspGluSerGlnGluGlyLysGlnGlnTyrLeuGlnSerIleGluGluArgGluLysLeuAspGlyLeuTyrGluCysIleLeuCysAlaCysCysSerThrSerCysProSerTyrTrpTrpAsnGlyAspLysTyrLeuGlyProAlaValLeuMetGlnAlaTyrArgTrpMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA169354",
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "referenceAllele": "C",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010681",
      "geneNCBI_id": 6390,
      "geneSymbol": "SDHB",
      "hgvs": [
        "NM_003000.3:c.136C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002991.2:p.Arg46Ter",
        "hgvsWellDefined": "NP_002991.2:p.Arg46_Val280delinsTrpAspProAspLysAlaGlyAspLysProHisMetGlnThrTyrGluValAspLeuAsnLysCysGlyProMetValLeuAspAlaLeuIleLysIleLysAsnGluValAspSerThrLeuThrPheArgArgSerCysArgGluGlyIleCysGlySerCysAlaMetAsnIleAsnGlyGlyAsnThrLeuAlaCysThrArgArgIleAspThrAsnLeuAsnLysValSerLysIleTyrProLeuProHisMetTyrValIleLysAspLeuValProAspLeuSerAsnPheTyrAlaGlnTyrLysSerIleGluProTyrLeuLysLysLysAspGluSerGlnGluGlyLysGlnGlnTyrLeuGlnSerIleGluGluArgGluLysLeuAspGlyLeuTyrGluCysIleLeuCysAlaCysCysSerThrSerCysProSerTyrTrpTrpAsnGlyAspLysTyrLeuGlyProAlaValLeuMetGlnAlaTyrArgTrpMetIleAspSerArgAspAspPheThrGluGluArgLeuAlaLysLeuGlnAspProPheSerLeuTyrArgCysHisThrIleMetAsnCysThrArgThrCysProLysGlyLeuAsnProGlyLysAlaIleAlaGluIleLysLysMetMetAlaThrTyrLysGluLysLysAlaSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375499.8:c.136C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003000.3:c.136C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364649.3:p.Arg46Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002991.2:p.Arg46Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}