{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA416547197",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.9594G>A (p.Val3198=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=863609[alleleid]",
        "alleleId": 863609,
        "preferredName": "NM_005529.7(HSPG2):c.9594G>A (p.Val3198=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/874935",
        "RCV": [
          "RCV001098332",
          "RCV001098333",
          "RCV001484023"
        ],
        "variationId": 874935
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22166430C>T?assembly=hg19",
        "id": "chr1:g.22166430C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21839937C>T?assembly=hg38",
        "id": "chr1:g.21839937C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1460932486",
        "rs": 1460932486
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22166430-C-T?dataset=gnomad_r2_1",
        "id": "1-22166430-C-T",
        "variant": "1:22166430 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21839937-C-T?dataset=gnomad_r3",
        "id": "1-21839937-C-T",
        "variant": "1:21839937 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21839937-C-T?dataset=gnomad_r4",
        "id": "1-21839937-C-T",
        "variant": "1:21839937 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21839937,
          "referenceAllele": "C",
          "start": 21839936
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21839937C>T",
        "CM000663.2:g.21839937C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22166430,
          "referenceAllele": "C",
          "start": 22166429
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22166430C>T",
        "CM000663.1:g.22166430C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22039017,
          "referenceAllele": "C",
          "start": 22039016
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22039017C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102321,
          "referenceAllele": "G",
          "start": 102320
        }
      ],
      "hgvs": [
        "NG_016740.1:g.102321G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9687,
          "referenceAllele": "G",
          "start": 9686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.9594G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Val3198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.9594G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.9594G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Val3198="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Val3198="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9674,
          "referenceAllele": "G",
          "start": 9673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.9594G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Val3198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811242",
      "coordinates": [
        {
          "allele": "A",
          "end": 9677,
          "referenceAllele": "G",
          "start": 9676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.9597G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Val3199="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829595918",
      "coordinates": [
        {
          "allele": "A",
          "end": 9674,
          "referenceAllele": "G",
          "start": 9673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.9594G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Val3198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10155,
          "referenceAllele": "G",
          "start": 10154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.10140G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Val3380="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10107,
          "referenceAllele": "G",
          "start": 10106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.10092G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Val3364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10086,
          "referenceAllele": "G",
          "start": 10085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.10071G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Val3357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9609,
          "referenceAllele": "G",
          "start": 9608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.9594G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Val3198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10158,
          "referenceAllele": "G",
          "start": 10157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.10143G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Val3381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10158,
          "referenceAllele": "G",
          "start": 10157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.10143G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Val3381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10158,
          "referenceAllele": "G",
          "start": 10157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.10143G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Val3381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9879,
          "referenceAllele": "G",
          "start": 9878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.9864G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Val3288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9663,
          "referenceAllele": "G",
          "start": 9662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.9648G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Val3216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10158,
          "referenceAllele": "G",
          "start": 10157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.10143G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Val3381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9804,
          "referenceAllele": "G",
          "start": 9803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.9789G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Val3263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9753,
          "referenceAllele": "G",
          "start": 9752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.9738G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Val3246="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9750,
          "referenceAllele": "G",
          "start": 9749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.9735G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Val3245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829595918",
      "coordinates": [
        {
          "allele": "A",
          "end": 9687,
          "referenceAllele": "G",
          "start": 9686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.9594G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Val3198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.9594G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.9594G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Val3198="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Val3198="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811242",
      "coordinates": [
        {
          "allele": "A",
          "end": 9690,
          "referenceAllele": "G",
          "start": 9689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.9597G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Val3199="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}