{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3498330",
  "communityStandardTitle": [
    "NM_000024.6(ADRB2):c.-47C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1253571[alleleid]",
        "alleleId": 1253571,
        "preferredName": "NM_000024.6(ADRB2):c.-47C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1262380",
        "RCV": [
          "RCV001667499",
          "RCV002221462"
        ],
        "variationId": 1262380
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-148206348-C-T",
        "id": "5-148206348-C-T",
        "variant": "5:148206348 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148206348C>T?assembly=hg19",
        "id": "chr5:g.148206348C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148826785C>T?assembly=hg38",
        "id": "chr5:g.148826785C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1042711",
        "rs": 1042711
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-148206348-C-T?dataset=gnomad_r2_1",
        "id": "5-148206348-C-T",
        "variant": "5:148206348 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-148826785-C-T?dataset=gnomad_r3",
        "id": "5-148826785-C-T",
        "variant": "5:148826785 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-148826785-C-T?dataset=gnomad_r4",
        "id": "5-148826785-C-T",
        "variant": "5:148826785 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148826785,
          "referenceAllele": "C",
          "start": 148826784
        }
      ],
      "hgvs": [
        "NC_000005.10:g.148826785C>T",
        "CM000667.2:g.148826785C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148206348,
          "referenceAllele": "C",
          "start": 148206347
        }
      ],
      "hgvs": [
        "NC_000005.9:g.148206348C>T",
        "CM000667.1:g.148206348C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148186541,
          "referenceAllele": "C",
          "start": 148186540
        }
      ],
      "hgvs": [
        "NC_000005.8:g.148186541C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5193,
          "referenceAllele": "C",
          "start": 5192
        }
      ],
      "hgvs": [
        "NG_016421.1:g.5193C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5193,
          "referenceAllele": "C",
          "start": 5192
        }
      ],
      "hgvs": [
        "NG_016421.2:g.5193C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706118"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "C",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000286",
      "geneNCBI_id": 154,
      "geneSymbol": "ADRB2",
      "hgvs": [
        "ENST00000305988.6:c.-47C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305372.4:n.-47C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745239",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305988.6:c.-47C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000024.6:c.-47C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305372.4:n.-47C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000015.2:n.-47C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000286",
      "geneNCBI_id": 154,
      "geneSymbol": "ADRB2",
      "hgvs": [
        "ENST00000305988.5:c.-47C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305372.4:n.-47C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000286",
      "geneNCBI_id": 154,
      "geneSymbol": "ADRB2",
      "hgvs": [
        "NM_000024.5:c.-47C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000015.1:n.-47C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "C",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000286",
      "geneNCBI_id": 154,
      "geneSymbol": "ADRB2",
      "hgvs": [
        "NM_000024.6:c.-47C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000015.2:n.-47C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674672",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305988.6:c.-47C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000024.6:c.-47C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305372.4:n.-47C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000015.2:n.-47C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}