{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA152391",
  "communityStandardTitle": [
    "NM_000747.3(CHRNB1):c.610+6T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134201[alleleid]",
        "alleleId": 134201,
        "preferredName": "NM_000747.3(CHRNB1):c.610+6T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128752",
        "RCV": [
          "RCV000116725",
          "RCV000397260",
          "RCV001510540"
        ],
        "variationId": 128752
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-7350975-T-C",
        "id": "17-7350975-T-C",
        "variant": "17:7350975 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7350975T>C?assembly=hg19",
        "id": "chr17:g.7350975T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7447656T>C?assembly=hg38",
        "id": "chr17:g.7447656T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2302765",
        "rs": 2302765
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7350975-T-C?dataset=gnomad_r2_1",
        "id": "17-7350975-T-C",
        "variant": "17:7350975 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7447656-T-C?dataset=gnomad_r3",
        "id": "17-7447656-T-C",
        "variant": "17:7447656 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7447656-T-C?dataset=gnomad_r4",
        "id": "17-7447656-T-C",
        "variant": "17:7447656 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7447656,
          "referenceAllele": "T",
          "start": 7447655
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7447656T>C",
        "CM000679.2:g.7447656T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7350975,
          "referenceAllele": "T",
          "start": 7350974
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7350975T>C",
        "CM000679.1:g.7350975T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7291699,
          "referenceAllele": "T",
          "start": 7291698
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7291699T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7570,
          "referenceAllele": "T",
          "start": 7569
        }
      ],
      "hgvs": [
        "NG_008026.1:g.7570T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000783"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 677,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001961",
      "geneNCBI_id": 1140,
      "geneSymbol": "CHRNB1",
      "hgvs": [
        "ENST00000306071.7:c.610+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304290.2:n.610+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745249",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306071.7:c.610+6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000747.3:c.610+6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304290.2:n.610+6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000738.2:n.610+6T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 677,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001961",
      "geneNCBI_id": 1140,
      "geneSymbol": "CHRNB1",
      "hgvs": [
        "ENST00000306071.6:c.610+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304290.2:n.610+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 524,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 524,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001961",
      "geneNCBI_id": 1140,
      "geneSymbol": "CHRNB1",
      "hgvs": [
        "ENST00000536404.6:c.394+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439209.2:n.394+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001961",
      "geneNCBI_id": 1140,
      "geneSymbol": "CHRNB1",
      "hgvs": [
        "ENST00000570557.5:c.483+6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1554,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1554,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001961",
      "geneNCBI_id": 1140,
      "geneSymbol": "CHRNB1",
      "hgvs": [
        "ENST00000573209.1:n.1554+6T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 496,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 496,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001961",
      "geneNCBI_id": 1140,
      "geneSymbol": "CHRNB1",
      "hgvs": [
        "ENST00000576360.1:c.394+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459092.1:n.394+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001961",
      "geneNCBI_id": 1140,
      "geneSymbol": "CHRNB1",
      "hgvs": [
        "NM_000747.2:c.610+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000738.2:n.610+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 677,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001961",
      "geneNCBI_id": 1140,
      "geneSymbol": "CHRNB1",
      "hgvs": [
        "NM_000747.3:c.610+6T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000738.2:n.610+6T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662560",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000306071.7:c.610+6T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000747.3:c.610+6T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304290.2:n.610+6T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000738.2:n.610+6T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}