{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4906184",
  "communityStandardTitle": [
    "NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4006860"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=313361[alleleid]",
        "alleleId": 313361,
        "preferredName": "NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/362220",
        "RCV": [
          "RCV000269208",
          "RCV000307908",
          "RCV000366140",
          "RCV000609130",
          "RCV001275480",
          "RCV001520473",
          "RCV002488813"
        ],
        "variationId": 362220
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-143996539-T-C",
        "id": "8-143996539-T-C",
        "variant": "8:143996539 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143996539T>C?assembly=hg19",
        "id": "chr8:g.143996539T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.142915123T>C?assembly=hg38",
        "id": "chr8:g.142915123T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4539",
        "rs": 4539
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143996539-T-C?dataset=gnomad_r2_1",
        "id": "8-143996539-T-C",
        "variant": "8:143996539 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-142915123-T-C?dataset=gnomad_r3",
        "id": "8-142915123-T-C",
        "variant": "8:142915123 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-142915123-T-C?dataset=gnomad_r4",
        "id": "8-142915123-T-C",
        "variant": "8:142915123 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 142915123,
          "referenceAllele": "T",
          "start": 142915122
        }
      ],
      "hgvs": [
        "NC_000008.11:g.142915123T>C",
        "CM000670.2:g.142915123T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 143996539,
          "referenceAllele": "T",
          "start": 143996538
        }
      ],
      "hgvs": [
        "NC_000008.10:g.143996539T>C",
        "CM000670.1:g.143996539T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 143993541,
          "referenceAllele": "T",
          "start": 143993540
        }
      ],
      "hgvs": [
        "NC_000008.9:g.143993541T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7721,
          "referenceAllele": "A",
          "start": 7720
        }
      ],
      "hgvs": [
        "NG_008374.1:g.7721A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001063"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 521,
          "referenceAllele": "A",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002592",
      "geneNCBI_id": 1585,
      "geneSymbol": "CYP11B2",
      "hgvs": [
        "ENST00000323110.2:c.518A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325822.2:p.Lys173Arg",
        "hgvsWellDefined": "ENSP00000325822.2:p.Lys173Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258173",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323110.2:c.518A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000498.3:c.518A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325822.2:p.Lys173Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000489.3:p.Lys173Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 329,
          "endIntronDirection": "+",
          "endIntronOffset": 1078,
          "referenceAllele": "T",
          "start": 329,
          "startIntronDirection": "+",
          "startIntronOffset": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004375",
      "geneNCBI_id": 2765,
      "geneSymbol": "GML",
      "hgvs": [
        "ENST00000522728.5:c.264+1078T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430799.1:n.264+1078T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485015",
      "coordinates": [
        {
          "allele": "G",
          "end": 521,
          "referenceAllele": "A",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002592",
      "geneNCBI_id": 1585,
      "geneSymbol": "CYP11B2",
      "hgvs": [
        "NM_000498.3:c.518A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000489.3:p.Lys173Arg",
        "hgvsWellDefined": "NP_000489.3:p.Lys173Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323110.2:c.518A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000498.3:c.518A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325822.2:p.Lys173Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000489.3:p.Lys173Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "referenceAllele": "A",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002592",
      "geneNCBI_id": 1585,
      "geneSymbol": "CYP11B2",
      "hgvs": [
        "XM_011516877.1:c.596A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515179.1:p.Lys199Arg",
        "hgvsWellDefined": "XP_011515179.1:p.Lys199Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084076"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "referenceAllele": "A",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002592",
      "geneNCBI_id": 1585,
      "geneSymbol": "CYP11B2",
      "hgvs": [
        "XM_011516878.1:c.596A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515180.1:p.Lys199Arg",
        "hgvsWellDefined": "XP_011515180.1:p.Lys199Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 540,
          "referenceAllele": "A",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002592",
      "geneNCBI_id": 1585,
      "geneSymbol": "CYP11B2",
      "hgvs": [
        "XM_011516879.1:c.518A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515181.1:p.Lys173Arg",
        "hgvsWellDefined": "XP_011515181.1:p.Lys173Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 526,
          "endIntronDirection": "+",
          "endIntronOffset": 1078,
          "referenceAllele": "T",
          "start": 526,
          "startIntronDirection": "+",
          "startIntronOffset": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004375",
      "geneNCBI_id": 2765,
      "geneSymbol": "GML",
      "hgvs": [
        "XM_011516970.1:c.297+1078T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515272.1:n.297+1078T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084169"
    }
  ],
  "type": "nucleotide"
}