{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA993075225",
  "communityStandardTitle": [
    "NM_000064.4(C3):c.1479+50C>G"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10411506",
        "rs": 10411506
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-6710937-G-C?dataset=gnomad_r3",
        "id": "19-6710937-G-C",
        "variant": "19:6710937 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-6710937-G-C?dataset=gnomad_r4",
        "id": "19-6710937-G-C",
        "variant": "19:6710937 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 6710937,
          "referenceAllele": "G",
          "start": 6710936
        }
      ],
      "hgvs": [
        "NC_000019.10:g.6710937G>C",
        "CM000681.2:g.6710937G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 6710948,
          "referenceAllele": "G",
          "start": 6710947
        }
      ],
      "hgvs": [
        "NC_000019.9:g.6710948G>C",
        "CM000681.1:g.6710948G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 6661948,
          "referenceAllele": "G",
          "start": 6661947
        }
      ],
      "hgvs": [
        "NC_000019.8:g.6661948G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14715,
          "referenceAllele": "C",
          "start": 14714
        }
      ],
      "hgvs": [
        "NG_009557.1:g.14715C>G",
        "LRG_27:g.14715C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001609"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1806,
          "endIntronDirection": "+",
          "endIntronOffset": 50,
          "referenceAllele": "C",
          "start": 1806,
          "startIntronDirection": "+",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000695652.1:c.1356+50C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512083.1:n.1356+50C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "endIntronDirection": "+",
          "endIntronOffset": 50,
          "referenceAllele": "C",
          "start": 603,
          "startIntronDirection": "+",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000695654.1:c.603+50C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512085.1:n.603+50C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 360,
          "endIntronDirection": "+",
          "endIntronOffset": 50,
          "referenceAllele": "C",
          "start": 360,
          "startIntronDirection": "+",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000695655.1:c.360+50C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512086.1:n.360+50C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 843,
          "endIntronDirection": "+",
          "endIntronOffset": 50,
          "referenceAllele": "C",
          "start": 843,
          "startIntronDirection": "+",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000695692.1:n.843+50C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1540,
          "endIntronDirection": "+",
          "endIntronOffset": 50,
          "referenceAllele": "C",
          "start": 1540,
          "startIntronDirection": "+",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000245907.11:c.1479+50C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245907.4:n.1479+50C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245907.11:c.1479+50C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000064.4:c.1479+50C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245907.4:n.1479+50C>G"
          },
          "RefSeq": {
            "hgvs": "NP_000055.2:n.1479+50C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1572,
          "endIntronDirection": "+",
          "endIntronOffset": 50,
          "referenceAllele": "C",
          "start": 1572,
          "startIntronDirection": "+",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000245907.10:c.1479+50C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245907.4:n.1479+50C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21,
          "referenceAllele": "C",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000600763.1:n.21C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1572,
          "endIntronDirection": "+",
          "endIntronOffset": 50,
          "referenceAllele": "C",
          "start": 1572,
          "startIntronDirection": "+",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "NM_000064.3:c.1479+50C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000055.2:n.1479+50C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1540,
          "endIntronDirection": "+",
          "endIntronOffset": 50,
          "referenceAllele": "C",
          "start": 1540,
          "startIntronDirection": "+",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "NM_000064.4:c.1479+50C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000055.2:n.1479+50C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245907.11:c.1479+50C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000064.4:c.1479+50C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245907.4:n.1479+50C>G"
          },
          "RefSeq": {
            "hgvs": "NP_000055.2:n.1479+50C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}