{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10627860",
  "communityStandardTitle": [
    "NM_000602.5(SERPINE1):c.*722T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=309196[alleleid]",
        "alleleId": 309196,
        "preferredName": "NM_000602.5(SERPINE1):c.*722T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/358319",
        "RCV": [
          "RCV000366344"
        ],
        "variationId": 358319
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.100781445T>G?assembly=hg19",
        "id": "chr7:g.100781445T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.101138164T>G?assembly=hg38",
        "id": "chr7:g.101138164T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7242",
        "rs": 7242
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-100781445-T-G?dataset=gnomad_r2_1",
        "id": "7-100781445-T-G",
        "variant": "7:100781445 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-101138164-T-G?dataset=gnomad_r3",
        "id": "7-101138164-T-G",
        "variant": "7:101138164 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-101138164-T-G?dataset=gnomad_r4",
        "id": "7-101138164-T-G",
        "variant": "7:101138164 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 101138164,
          "referenceAllele": "T",
          "start": 101138163
        }
      ],
      "hgvs": [
        "NC_000007.14:g.101138164T>G",
        "CM000669.2:g.101138164T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 100781445,
          "referenceAllele": "T",
          "start": 100781444
        }
      ],
      "hgvs": [
        "NC_000007.13:g.100781445T>G",
        "CM000669.1:g.100781445T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 100568165,
          "referenceAllele": "T",
          "start": 100568164
        }
      ],
      "hgvs": [
        "NC_000007.12:g.100568165T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16067,
          "referenceAllele": "T",
          "start": 16066
        }
      ],
      "hgvs": [
        "NG_013213.1:g.16067T>G",
        "LRG_597:g.16067T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2073,
          "referenceAllele": "T",
          "start": 2072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "ENST00000223095.5:c.*722T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223095.4:n.*722T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740605",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000223095.5:c.*722T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000602.5:c.*722T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000223095.4:n.*722T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000593.1:n.*722T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2088,
          "referenceAllele": "T",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "ENST00000223095.4:c.*722T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223095.4:n.*722T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2088,
          "referenceAllele": "T",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_000602.4:c.*722T>G",
        "LRG_597t1:c.*722T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000593.1:n.*722T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2073,
          "referenceAllele": "T",
          "start": 2072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_000602.5:c.*722T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000593.1:n.*722T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000223095.5:c.*722T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000602.5:c.*722T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000223095.4:n.*722T>G"
          },
          "RefSeq": {
            "hgvs": "NP_000593.1:n.*722T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1852,
          "referenceAllele": "T",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386456.1:c.*722T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373385.1:n.*722T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1937,
          "referenceAllele": "T",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386457.1:c.*733T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373386.1:n.*733T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2094,
          "referenceAllele": "T",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386458.1:c.*722T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373387.1:n.*722T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1493,
          "referenceAllele": "T",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386459.1:c.*67T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373388.1:n.*67T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1688,
          "referenceAllele": "T",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386460.1:c.*67T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373389.1:n.*67T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1571,
          "referenceAllele": "T",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386461.1:c.*67T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373390.1:n.*67T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1940,
          "referenceAllele": "T",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386462.1:c.*722T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373391.1:n.*722T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2066,
          "referenceAllele": "T",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386463.1:c.*722T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373392.1:n.*722T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2224,
          "referenceAllele": "T",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386464.1:c.*813T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373393.1:n.*813T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2088,
          "referenceAllele": "T",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386465.1:c.*722T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373394.1:n.*722T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008583",
      "geneNCBI_id": 5054,
      "geneSymbol": "SERPINE1",
      "hgvs": [
        "NM_001386466.1:c.*722T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373395.1:n.*722T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724533"
    }
  ],
  "type": "nucleotide"
}