{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4714353",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.785C>G (p.Pro262Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2716942[alleleid]",
        "alleleId": 2716942,
        "preferredName": "NM_000025.3(ADRB3):c.785C>G (p.Pro262Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2560782",
        "RCV": [
          "RCV004330031"
        ],
        "variationId": 2560782
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-37823203-G-C",
        "id": "8-37823203-G-C",
        "variant": "8:37823203 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.37823203G>C?assembly=hg19",
        "id": "chr8:g.37823203G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.37965685G>C?assembly=hg38",
        "id": "chr8:g.37965685G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771187056",
        "rs": 771187056
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-37823203-G-C?dataset=gnomad_r2_1",
        "id": "8-37823203-G-C",
        "variant": "8:37823203 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-37965685-G-C?dataset=gnomad_r3",
        "id": "8-37965685-G-C",
        "variant": "8:37965685 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-37965685-G-C?dataset=gnomad_r4",
        "id": "8-37965685-G-C",
        "variant": "8:37965685 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 37965685,
          "referenceAllele": "G",
          "start": 37965684
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965685G>C",
        "CM000670.2:g.37965685G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 37823203,
          "referenceAllele": "G",
          "start": 37823202
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823203G>C",
        "CM000670.1:g.37823203G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 37942360,
          "referenceAllele": "G",
          "start": 37942359
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942360G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5982,
          "referenceAllele": "C",
          "start": 5981
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5982C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.785C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Pro262Arg",
        "hgvsWellDefined": "ENSP00000343782.3:p.Pro262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.785C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.785C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Pro262Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Pro262Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.913C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.269C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Pro90Arg",
        "hgvsWellDefined": "ENSP00000497740.1:p.Pro90Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.785C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Pro262Arg",
        "hgvsWellDefined": "ENSP00000343782.3:p.Pro262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60,
          "referenceAllele": "C",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.60C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.785C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Pro262Arg",
        "hgvsWellDefined": "ENSP00000480325.1:p.Pro262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809216",
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.785C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Pro262Arg",
        "hgvsWellDefined": "NP_000016.1:p.Pro262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809216",
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.785C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Pro262Arg",
        "hgvsWellDefined": "NP_000016.1:p.Pro262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.785C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.785C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Pro262Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Pro262Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}