{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15510539",
  "communityStandardTitle": [
    "NM_000601.6(HGF):c.1616+341G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.81336265C>T?assembly=hg19",
        "id": "chr7:g.81336265C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.81706949C>T?assembly=hg38",
        "id": "chr7:g.81706949C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2074724",
        "rs": 2074724
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-81336265-C-T?dataset=gnomad_r2_1",
        "id": "7-81336265-C-T",
        "variant": "7:81336265 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-81706949-C-T?dataset=gnomad_r3",
        "id": "7-81706949-C-T",
        "variant": "7:81706949 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-81706949-C-T?dataset=gnomad_r4",
        "id": "7-81706949-C-T",
        "variant": "7:81706949 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 81706949,
          "referenceAllele": "C",
          "start": 81706948
        }
      ],
      "hgvs": [
        "NC_000007.14:g.81706949C>T",
        "CM000669.2:g.81706949C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 81336265,
          "referenceAllele": "C",
          "start": 81336264
        }
      ],
      "hgvs": [
        "NC_000007.13:g.81336265C>T",
        "CM000669.1:g.81336265C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 81174201,
          "referenceAllele": "C",
          "start": 81174200
        }
      ],
      "hgvs": [
        "NC_000007.12:g.81174201C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 68188,
          "referenceAllele": "G",
          "start": 68187
        }
      ],
      "hgvs": [
        "NG_016274.1:g.68188G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 68188,
          "referenceAllele": "G",
          "start": 68187
        }
      ],
      "hgvs": [
        "NG_016274.2:g.68188G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616218"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1692,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "ENST00000222390.11:c.1616+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222390.5:n.1616+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740570",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222390.11:c.1616+341G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000601.6:c.1616+341G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222390.5:n.1616+341G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000592.3:n.1616+341G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1678,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1678,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "ENST00000457544.7:c.1601+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391238.2:n.1601+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1843,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1843,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "ENST00000222390.9:c.1616+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222390.5:n.1616+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1678,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1678,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "ENST00000457544.6:c.1601+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391238.2:n.1601+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1781,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1781,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "NM_000601.4:c.1616+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000592.3:n.1616+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1766,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1766,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "NM_001010932.1:c.1601+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010932.1:n.1601+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1806,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1806,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "XM_006715956.2:c.1616+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716019.1:n.1616+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1791,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1791,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "XM_011516115.1:c.1601+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514417.1:n.1601+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1843,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1843,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "NM_000601.5:c.1616+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000592.3:n.1616+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1828,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1828,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "NM_001010932.2:c.1601+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010932.1:n.1601+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1791,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1791,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "XM_011516115.2:c.1601+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514417.1:n.1601+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1692,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "NM_000601.6:c.1616+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000592.3:n.1616+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662500",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222390.11:c.1616+341G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000601.6:c.1616+341G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222390.5:n.1616+341G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000592.3:n.1616+341G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1677,
          "endIntronDirection": "+",
          "endIntronOffset": 341,
          "referenceAllele": "G",
          "start": 1677,
          "startIntronDirection": "+",
          "startIntronOffset": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004893",
      "geneNCBI_id": 3082,
      "geneSymbol": "HGF",
      "hgvs": [
        "NM_001010932.3:c.1601+341G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010932.1:n.1601+341G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675383"
    }
  ],
  "type": "nucleotide"
}