{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4405695",
  "communityStandardTitle": [
    "NM_000602.5(SERPINE1):c.701-45G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN20401066"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1236542[alleleid]",
        "alleleId": 1236542,
        "preferredName": "NM_000602.5(SERPINE1):c.701-45G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1246591",
        "RCV": [
          "RCV001641946"
        ],
        "variationId": 1246591
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-100776931-G-A",
        "id": "7-100776931-G-A",
        "variant": "7:100776931 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.100776931G>A?assembly=hg19",
        "id": "chr7:g.100776931G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.101133650G>A?assembly=hg38",
        "id": "chr7:g.101133650G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2227684",
        "rs": 2227684
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-100776931-G-A?dataset=gnomad_r2_1",
        "id": "7-100776931-G-A",
        "variant": "7:100776931 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-101133650-G-A?dataset=gnomad_r3",
        "id": "7-101133650-G-A",
        "variant": "7:101133650 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-101133650-G-A?dataset=gnomad_r4",
        "id": "7-101133650-G-A",
        "variant": "7:101133650 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 101133650,
          "referenceAllele": "G",
          "start": 101133649
        }
      ],
      "hgvs": [
        "NC_000007.14:g.101133650G>A",
        "CM000669.2:g.101133650G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 100776931,
          "referenceAllele": "G",
          "start": 100776930
        }
      ],
      "hgvs": [
        "NC_000007.13:g.100776931G>A",
        "CM000669.1:g.100776931G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 100563651,
          "referenceAllele": "G",
          "start": 100563650
        }
      ],
      "hgvs": [
        "NC_000007.12:g.100563651G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11553,
          "referenceAllele": "G",
          "start": 11552
        }
      ],
      "hgvs": [
        "NG_013213.1:g.11553G>A",
        "LRG_597:g.11553G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "ENST00000223095.5:c.701-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223095.4:n.701-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740605",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000223095.5:c.701-45G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000602.5:c.701-45G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000223095.4:n.701-45G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000593.1:n.701-45G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 857,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "ENST00000223095.4:c.701-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223095.4:n.701-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 857,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_000602.4:c.701-45G>A",
        "LRG_597t1:c.701-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000593.1:n.701-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_000602.5:c.701-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000593.1:n.701-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000223095.5:c.701-45G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000602.5:c.701-45G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000223095.4:n.701-45G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000593.1:n.701-45G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 621,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 621,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386456.1:c.449-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373385.1:n.449-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386457.1:c.701-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373386.1:n.701-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386458.1:c.701-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373387.1:n.701-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386459.1:c.701-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373388.1:n.701-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386460.1:c.701-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373389.1:n.701-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386461.1:c.701-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373390.1:n.701-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 709,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386462.1:c.500-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373391.1:n.500-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 835,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386463.1:c.695-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373392.1:n.695-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386464.1:c.701-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373393.1:n.701-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386465.1:c.701-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373394.1:n.701-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 866,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386466.1:c.725-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373395.1:n.725-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724533"
    }
  ],
  "type": "nucleotide"
}