{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120138",
  "communityStandardTitle": [
    "NM_000370.3(TTPA):c.575G>A (p.Arg192His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24179[alleleid]",
        "alleleId": 24179,
        "preferredName": "NM_000370.3(TTPA):c.575G>A (p.Arg192His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9140",
        "RCV": [
          "RCV000009711",
          "RCV000055803",
          "RCV002260962",
          "RCV003155023",
          "RCV003415680"
        ],
        "variationId": 9140
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-63976853-C-T",
        "id": "8-63976853-C-T",
        "variant": "8:63976853 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.63976853C>T?assembly=hg19",
        "id": "chr8:g.63976853C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.63064294C>T?assembly=hg38",
        "id": "chr8:g.63064294C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121917850",
        "rs": 121917850
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-63976853-C-T?dataset=gnomad_r2_1",
        "id": "8-63976853-C-T",
        "variant": "8:63976853 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-63064294-C-T?dataset=gnomad_r3",
        "id": "8-63064294-C-T",
        "variant": "8:63064294 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-63064294-C-T?dataset=gnomad_r4",
        "id": "8-63064294-C-T",
        "variant": "8:63064294 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 63064294,
          "referenceAllele": "C",
          "start": 63064293
        }
      ],
      "hgvs": [
        "NC_000008.11:g.63064294C>T",
        "CM000670.2:g.63064294C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 63976853,
          "referenceAllele": "C",
          "start": 63976852
        }
      ],
      "hgvs": [
        "NC_000008.10:g.63976853C>T",
        "CM000670.1:g.63976853C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 64139407,
          "referenceAllele": "C",
          "start": 64139406
        }
      ],
      "hgvs": [
        "NC_000008.9:g.64139407C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26760,
          "referenceAllele": "G",
          "start": 26759
        }
      ],
      "hgvs": [
        "NG_016123.1:g.26760G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002963"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "ENST00000260116.5:c.575G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260116.4:p.Arg192His",
        "hgvsWellDefined": "ENSP00000260116.4:p.Arg192His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260116.5:c.575G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000370.3:c.575G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260116.4:p.Arg192His"
          },
          "RefSeq": {
            "hgvs": "NP_000361.1:p.Arg192His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "ENST00000260116.4:c.575G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260116.4:p.Arg192His",
        "hgvsWellDefined": "ENSP00000260116.4:p.Arg192His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 232,
          "endIntronDirection": "-",
          "endIntronOffset": 15690,
          "referenceAllele": "G",
          "start": 232,
          "startIntronDirection": "-",
          "startIntronOffset": 15691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "ENST00000521138.1:n.233-15691G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099505",
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "NM_000370.3:c.575G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000361.1:p.Arg192His",
        "hgvsWellDefined": "NP_000361.1:p.Arg192His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006432",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260116.5:c.575G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000370.3:c.575G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260116.4:p.Arg192His"
          },
          "RefSeq": {
            "hgvs": "NP_000361.1:p.Arg192His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "XM_006716468.2:c.227G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716531.1:p.Arg76His",
        "hgvsWellDefined": "XP_006716531.1:p.Arg76His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012404",
      "geneNCBI_id": 7274,
      "geneSymbol": "TTPA",
      "hgvs": [
        "XM_006716468.4:c.227G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716531.1:p.Arg76His",
        "hgvsWellDefined": "XP_006716531.1:p.Arg76His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539185"
    }
  ],
  "type": "nucleotide"
}