{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3250015",
  "communityStandardTitle": [
    "NM_000587.4(C7):c.1561C>T (p.Arg521Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5996238",
        "active": true,
        "id": "COSM5996238"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5996239",
        "active": true,
        "id": "COSM5996239"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-40959622-C-T",
        "id": "5-40959622-C-T",
        "variant": "5:40959622 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.40959622C>T?assembly=hg19",
        "id": "chr5:g.40959622C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.40959520C>T?assembly=hg38",
        "id": "chr5:g.40959520C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964920",
        "rs": 121964920
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-40959622-C-T?dataset=gnomad_r2_1",
        "id": "5-40959622-C-T",
        "variant": "5:40959622 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-40959520-C-T?dataset=gnomad_r3",
        "id": "5-40959520-C-T",
        "variant": "5:40959520 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-40959520-C-T?dataset=gnomad_r4",
        "id": "5-40959520-C-T",
        "variant": "5:40959520 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 40959520,
          "referenceAllele": "C",
          "start": 40959519
        }
      ],
      "hgvs": [
        "NC_000005.10:g.40959520C>T",
        "CM000667.2:g.40959520C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 40959622,
          "referenceAllele": "C",
          "start": 40959621
        }
      ],
      "hgvs": [
        "NC_000005.9:g.40959622C>T",
        "CM000667.1:g.40959622C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 40995379,
          "referenceAllele": "C",
          "start": 40995378
        }
      ],
      "hgvs": [
        "NC_000005.8:g.40995379C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55024,
          "referenceAllele": "C",
          "start": 55023
        }
      ],
      "hgvs": [
        "NG_011692.1:g.55024C>T",
        "LRG_30:g.55024C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001903"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "ENST00000696333.1:c.1561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512566.1:p.Arg521Cys",
        "hgvsWellDefined": "ENSP00000512566.1:p.Arg521Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1680,
          "referenceAllele": "C",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "ENST00000696441.1:c.1561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512631.1:p.Arg521Cys",
        "hgvsWellDefined": "ENSP00000512631.1:p.Arg521Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "ENST00000706664.1:n.1675C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "ENST00000706666.1:n.1637C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "C",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "ENST00000706667.1:n.2451C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2289,
          "referenceAllele": "C",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "ENST00000706668.1:n.2289C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "ENST00000313164.10:c.1561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322061.9:p.Arg521Cys",
        "hgvsWellDefined": "ENSP00000322061.9:p.Arg521Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313164.10:c.1561C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000587.4:c.1561C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322061.9:p.Arg521Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000578.2:p.Arg521Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1920,
          "referenceAllele": "C",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "ENST00000313164.9:c.1561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322061.9:p.Arg521Cys",
        "hgvsWellDefined": "ENSP00000322061.9:p.Arg521Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948456",
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "NM_000587.2:c.1561C>T",
        "LRG_30t1:c.1561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000578.2:p.Arg521Cys",
        "hgvsWellDefined": "NP_000578.2:p.Arg521Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "XM_011514122.1:c.1561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512424.1:p.Arg521Cys",
        "hgvsWellDefined": "XP_011512424.1:p.Arg521Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948456",
      "coordinates": [
        {
          "allele": "T",
          "end": 1920,
          "referenceAllele": "C",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "NM_000587.3:c.1561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000578.2:p.Arg521Cys",
        "hgvsWellDefined": "NP_000578.2:p.Arg521Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948456",
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "NM_000587.4:c.1561C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000578.2:p.Arg521Cys",
        "hgvsWellDefined": "NP_000578.2:p.Arg521Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674900",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313164.10:c.1561C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000587.4:c.1561C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322061.9:p.Arg521Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000578.2:p.Arg521Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}