{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1245626183",
  "communityStandardTitle": [
    "NM_000104.4(CYP1B1):c.1120G= (p.Asp374=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893622",
        "rs": 104893622
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 38071234,
          "referenceAllele": "C",
          "start": 38071233
        }
      ],
      "hgvs": [
        "NC_000002.12:g.38071234C=",
        "CM000664.2:g.38071234C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 38298377,
          "referenceAllele": "C",
          "start": 38298376
        }
      ],
      "hgvs": [
        "NC_000002.11:g.38298377C=",
        "CM000664.1:g.38298377C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 38151881,
          "referenceAllele": "C",
          "start": 38151880
        }
      ],
      "hgvs": [
        "NC_000002.10:g.38151881C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9868,
          "referenceAllele": "G",
          "start": 9867
        }
      ],
      "hgvs": [
        "NG_008386.2:g.9868G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000490576.2:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478839.2:p.Asp374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1493,
          "referenceAllele": "G",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000610745.5:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478561.1:p.Asp374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610745.5:c.1120G="
          },
          "RefSeq": {
            "hgvs": "NM_000104.4:c.1120G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478561.1:p.Asp374="
          },
          "RefSeq": {
            "hgvs": "NP_000095.2:p.Asp374="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000492443.1:n.498G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000494864.1:c.7G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479876.1:p.Asp3="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "G",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000610745.4:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478561.1:p.Asp374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000613082.1:n.515G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000614273.1:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483678.1:p.Asp374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066520221",
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "G",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "NM_000104.3:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000095.2:p.Asp374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066520221",
      "coordinates": [
        {
          "allele": "G",
          "end": 1493,
          "referenceAllele": "G",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "NM_000104.4:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000095.2:p.Asp374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610745.5:c.1120G="
          },
          "RefSeq": {
            "hgvs": "NM_000104.4:c.1120G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478561.1:p.Asp374="
          },
          "RefSeq": {
            "hgvs": "NP_000095.2:p.Asp374="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}