{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA969461",
  "communityStandardTitle": [
    "NM_001918.5(DBT):c.1384C>T (p.Arg462Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=892955",
        "active": true,
        "id": "COSM892955"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1437136[alleleid]",
        "alleleId": 1437136,
        "preferredName": "NM_001918.5(DBT):c.1384C>T (p.Arg462Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1505569",
        "RCV": [
          "RCV001999539"
        ],
        "variationId": 1505569
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-100661876-G-A",
        "id": "1-100661876-G-A",
        "variant": "1:100661876 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100661876G>A?assembly=hg19",
        "id": "chr1:g.100661876G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100196320G>A?assembly=hg38",
        "id": "chr1:g.100196320G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765257706",
        "rs": 765257706
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100661876-G-A?dataset=gnomad_r2_1",
        "id": "1-100661876-G-A",
        "variant": "1:100661876 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100196320-G-A?dataset=gnomad_r3",
        "id": "1-100196320-G-A",
        "variant": "1:100196320 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-100196320-G-A?dataset=gnomad_r4",
        "id": "1-100196320-G-A",
        "variant": "1:100196320 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 100196320,
          "referenceAllele": "G",
          "start": 100196319
        }
      ],
      "hgvs": [
        "NC_000001.11:g.100196320G>A",
        "CM000663.2:g.100196320G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 100661876,
          "referenceAllele": "G",
          "start": 100661875
        }
      ],
      "hgvs": [
        "NC_000001.10:g.100661876G>A",
        "CM000663.1:g.100661876G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 100434464,
          "referenceAllele": "G",
          "start": 100434463
        }
      ],
      "hgvs": [
        "NC_000001.9:g.100434464G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 58534,
          "referenceAllele": "C",
          "start": 58533
        }
      ],
      "hgvs": [
        "NG_011852.2:g.58534C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002030"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1513,
          "referenceAllele": "C",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681617.1:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505544.1:p.Arg504Cys",
        "hgvsWellDefined": "ENSP00000505544.1:p.Arg504Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000681780.1:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505780.1:p.Arg281Cys",
        "hgvsWellDefined": "ENSP00000505780.1:p.Arg281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "ENST00000370132.8:c.1384C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359151.3:p.Arg462Cys",
        "hgvsWellDefined": "ENSP00000359151.3:p.Arg462Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267893",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.1384C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.1384C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Arg462Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Arg462Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.3:c.1384C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Arg462Cys",
        "hgvsWellDefined": "NP_001909.3:p.Arg462Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1614,
          "referenceAllele": "C",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.2:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Arg281Cys",
        "hgvsWellDefined": "XP_005270602.1:p.Arg281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270546.2:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270603.1:p.Arg281Cys",
        "hgvsWellDefined": "XP_005270603.1:p.Arg281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_005270545.4:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270602.1:p.Arg281Cys",
        "hgvsWellDefined": "XP_005270602.1:p.Arg281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1644,
          "referenceAllele": "C",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000468.2:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855957.1:p.Arg281Cys",
        "hgvsWellDefined": "XP_016855957.1:p.Arg281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "XM_017000469.2:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855958.1:p.Arg281Cys",
        "hgvsWellDefined": "XP_016855958.1:p.Arg281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.4:c.1384C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.3:p.Arg462Cys",
        "hgvsWellDefined": "NP_001909.3:p.Arg462Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573224166",
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001918.5:c.1384C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001909.4:p.Arg462Cys",
        "hgvsWellDefined": "NP_001909.4:p.Arg462Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370132.8:c.1384C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001918.5:c.1384C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359151.3:p.Arg462Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001909.4:p.Arg462Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399969.1:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386898.1:p.Arg281Cys",
        "hgvsWellDefined": "NP_001386898.1:p.Arg281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "referenceAllele": "C",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NM_001399972.1:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386901.1:p.Arg281Cys",
        "hgvsWellDefined": "NP_001386901.1:p.Arg281Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1216,
          "referenceAllele": "C",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174363.1:n.1216C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174364.1:n.1557C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174365.1:n.1181C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1483,
          "referenceAllele": "C",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NR_174366.1:n.1483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784820"
    }
  ],
  "type": "nucleotide"
}