{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA671964",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5416117"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=280688[alleleid]",
        "alleleId": 280688,
        "preferredName": "NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/295834",
        "RCV": [
          "RCV000304366",
          "RCV000361371",
          "RCV000517424",
          "RCV000658125",
          "RCV002278371"
        ],
        "variationId": 295834
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22183875-G-A",
        "id": "1-22183875-G-A",
        "variant": "1:22183875 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22183875G>A?assembly=hg19",
        "id": "chr1:g.22183875G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21857382G>A?assembly=hg38",
        "id": "chr1:g.21857382G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139794766",
        "rs": 139794766
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22183875-G-A?dataset=gnomad_r2_1",
        "id": "1-22183875-G-A",
        "variant": "1:22183875 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21857382-G-A?dataset=gnomad_r3",
        "id": "1-21857382-G-A",
        "variant": "1:21857382 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21857382-G-A?dataset=gnomad_r4",
        "id": "1-21857382-G-A",
        "variant": "1:21857382 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21857382,
          "referenceAllele": "G",
          "start": 21857381
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21857382G>A",
        "CM000663.2:g.21857382G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22183875,
          "referenceAllele": "G",
          "start": 22183874
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22183875G>A",
        "CM000663.1:g.22183875G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22056462,
          "referenceAllele": "G",
          "start": 22056461
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22056462G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84876,
          "referenceAllele": "C",
          "start": 84875
        }
      ],
      "hgvs": [
        "NG_016740.1:g.84876C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5390,
          "referenceAllele": "C",
          "start": 5389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.5297C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala1766Val",
        "hgvsWellDefined": "ENSP00000363827.3:p.Ala1766Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.5297C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.5297C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala1766Val"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala1766Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5377,
          "referenceAllele": "C",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.5297C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala1766Val",
        "hgvsWellDefined": "ENSP00000363827.3:p.Ala1766Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017985",
      "coordinates": [
        {
          "allele": "T",
          "end": 5380,
          "referenceAllele": "C",
          "start": 5379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.5300C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala1767Val",
        "hgvsWellDefined": "NP_001278789.1:p.Ala1767Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396195",
      "coordinates": [
        {
          "allele": "T",
          "end": 5377,
          "referenceAllele": "C",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.5297C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala1766Val",
        "hgvsWellDefined": "NP_005520.4:p.Ala1766Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5858,
          "referenceAllele": "C",
          "start": 5857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.5843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Ala1948Val",
        "hgvsWellDefined": "XP_006710657.1:p.Ala1948Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5810,
          "referenceAllele": "C",
          "start": 5809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.5795C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Ala1932Val",
        "hgvsWellDefined": "XP_006710658.1:p.Ala1932Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5789,
          "referenceAllele": "C",
          "start": 5788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.5774C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Ala1925Val",
        "hgvsWellDefined": "XP_006710659.1:p.Ala1925Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5312,
          "referenceAllele": "C",
          "start": 5311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.5297C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Ala1766Val",
        "hgvsWellDefined": "XP_006710660.1:p.Ala1766Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5861,
          "referenceAllele": "C",
          "start": 5860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.5846C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Ala1949Val",
        "hgvsWellDefined": "XP_011539619.1:p.Ala1949Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5861,
          "referenceAllele": "C",
          "start": 5860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.5846C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala1949Val",
        "hgvsWellDefined": "XP_011539620.1:p.Ala1949Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5861,
          "referenceAllele": "C",
          "start": 5860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.5846C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Ala1949Val",
        "hgvsWellDefined": "XP_011539621.1:p.Ala1949Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5861,
          "referenceAllele": "C",
          "start": 5860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.5846C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Ala1949Val",
        "hgvsWellDefined": "XP_011539622.1:p.Ala1949Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5366,
          "referenceAllele": "C",
          "start": 5365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.5351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Ala1784Val",
        "hgvsWellDefined": "XP_011539623.1:p.Ala1784Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5869,
          "referenceAllele": "C",
          "start": 5868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541322.1:c.5846C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539624.1:p.Ala1949Val",
        "hgvsWellDefined": "XP_011539624.1:p.Ala1949Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5861,
          "referenceAllele": "C",
          "start": 5860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.5846C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala1949Val",
        "hgvsWellDefined": "XP_011539620.1:p.Ala1949Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5507,
          "referenceAllele": "C",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.5492C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Ala1831Val",
        "hgvsWellDefined": "XP_016856609.1:p.Ala1831Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5456,
          "referenceAllele": "C",
          "start": 5455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.5441C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Ala1814Val",
        "hgvsWellDefined": "XP_016856610.1:p.Ala1814Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5453,
          "referenceAllele": "C",
          "start": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.5438C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Ala1813Val",
        "hgvsWellDefined": "XP_016856611.1:p.Ala1813Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396195",
      "coordinates": [
        {
          "allele": "T",
          "end": 5390,
          "referenceAllele": "C",
          "start": 5389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.5297C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala1766Val",
        "hgvsWellDefined": "NP_005520.4:p.Ala1766Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.5297C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.5297C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala1766Val"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala1766Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017985",
      "coordinates": [
        {
          "allele": "T",
          "end": 5393,
          "referenceAllele": "C",
          "start": 5392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.5300C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala1767Val",
        "hgvsWellDefined": "NP_001278789.1:p.Ala1767Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}