{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346328962",
  "communityStandardTitle": [
    "NM_000104.4(CYP1B1):c.575A>T (p.Asp192Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835658[alleleid]",
        "alleleId": 2835658,
        "preferredName": "NM_000104.4(CYP1B1):c.575A>T (p.Asp192Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2681133",
        "RCV": [
          "RCV003468668",
          "RCV003594700"
        ],
        "variationId": 2681133
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.38301957T>A?assembly=hg19",
        "id": "chr2:g.38301957T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.38074814T>A?assembly=hg38",
        "id": "chr2:g.38074814T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1235928280",
        "rs": 1235928280
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-38074814-T-A?dataset=gnomad_r4",
        "id": "2-38074814-T-A",
        "variant": "2:38074814 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 38074814,
          "referenceAllele": "T",
          "start": 38074813
        }
      ],
      "hgvs": [
        "NC_000002.12:g.38074814T>A",
        "CM000664.2:g.38074814T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 38301957,
          "referenceAllele": "T",
          "start": 38301956
        }
      ],
      "hgvs": [
        "NC_000002.11:g.38301957T>A",
        "CM000664.1:g.38301957T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 38155461,
          "referenceAllele": "T",
          "start": 38155460
        }
      ],
      "hgvs": [
        "NC_000002.10:g.38155461T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6288,
          "referenceAllele": "A",
          "start": 6287
        }
      ],
      "hgvs": [
        "NG_008386.2:g.6288A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "A",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000490576.2:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478839.2:p.Asp192Val",
        "hgvsWellDefined": "ENSP00000478839.2:p.Asp192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "A",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000610745.5:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478561.1:p.Asp192Val",
        "hgvsWellDefined": "ENSP00000478561.1:p.Asp192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610745.5:c.575A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000104.4:c.575A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478561.1:p.Asp192Val"
          },
          "RefSeq": {
            "hgvs": "NP_000095.2:p.Asp192Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 3503,
          "referenceAllele": "A",
          "start": 234,
          "startIntronDirection": "-",
          "startIntronOffset": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000494864.1:c.-70-3504A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479876.1:n.-70-3504A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "A",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000610745.4:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478561.1:p.Asp192Val",
        "hgvsWellDefined": "ENSP00000478561.1:p.Asp192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "endIntronDirection": "-",
          "endIntronOffset": 405,
          "referenceAllele": "A",
          "start": 375,
          "startIntronDirection": "-",
          "startIntronOffset": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000613082.1:n.376-406A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "A",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000614273.1:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483678.1:p.Asp192Val",
        "hgvsWellDefined": "ENSP00000483678.1:p.Asp192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101732",
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "A",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "NM_000104.3:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000095.2:p.Asp192Val",
        "hgvsWellDefined": "NP_000095.2:p.Asp192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101732",
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "A",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "NM_000104.4:c.575A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000095.2:p.Asp192Val",
        "hgvsWellDefined": "NP_000095.2:p.Asp192Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610745.5:c.575A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000104.4:c.575A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478561.1:p.Asp192Val"
          },
          "RefSeq": {
            "hgvs": "NP_000095.2:p.Asp192Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}