{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA370695648",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.383T>C (p.Leu128Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.37823605A>G?assembly=hg19",
        "id": "chr8:g.37823605A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.37966087A>G?assembly=hg38",
        "id": "chr8:g.37966087A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2486629727",
        "rs": 2486629727
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-37966087-A-G?dataset=gnomad_r4",
        "id": "8-37966087-A-G",
        "variant": "8:37966087 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 37966087,
          "referenceAllele": "A",
          "start": 37966086
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37966087A>G",
        "CM000670.2:g.37966087A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 37823605,
          "referenceAllele": "A",
          "start": 37823604
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823605A>G",
        "CM000670.1:g.37823605A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 37942762,
          "referenceAllele": "A",
          "start": 37942761
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942762A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5580,
          "referenceAllele": "T",
          "start": 5579
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5580T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "T",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.383T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Leu128Pro",
        "hgvsWellDefined": "ENSP00000343782.3:p.Leu128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.383T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.383T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Leu128Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Leu128Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "T",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.511T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 879,
          "referenceAllele": "T",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.383T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Leu128Pro",
        "hgvsWellDefined": "ENSP00000343782.3:p.Leu128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 580,
          "referenceAllele": "T",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.383T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Leu128Pro",
        "hgvsWellDefined": "ENSP00000480325.1:p.Leu128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075437182",
      "coordinates": [
        {
          "allele": "C",
          "end": 580,
          "referenceAllele": "T",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.383T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Leu128Pro",
        "hgvsWellDefined": "NP_000016.1:p.Leu128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075437182",
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "T",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.383T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Leu128Pro",
        "hgvsWellDefined": "NP_000016.1:p.Leu128Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.383T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.383T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Leu128Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Leu128Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}