{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342940051",
  "communityStandardTitle": [
    "NM_002529.4(NTRK1):c.2020G>C (p.Asp674His)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156849128G>C?assembly=hg19",
        "id": "chr1:g.156849128G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156879336G>C?assembly=hg38",
        "id": "chr1:g.156879336G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356677",
        "rs": 80356677
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156879336,
          "referenceAllele": "G",
          "start": 156879335
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156879336G>C",
        "CM000663.2:g.156879336G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156849128,
          "referenceAllele": "G",
          "start": 156849127
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156849128G>C",
        "CM000663.1:g.156849128G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 155115752,
          "referenceAllele": "G",
          "start": 155115751
        }
      ],
      "hgvs": [
        "NC_000001.9:g.155115752G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 68587,
          "referenceAllele": "G",
          "start": 68586
        }
      ],
      "hgvs": [
        "NG_007493.1:g.68587G>C",
        "LRG_261:g.68587G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000615"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2246,
          "referenceAllele": "G",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000674537.2:c.1840G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502725.1:p.Asp614His",
        "hgvsWellDefined": "ENSP00000502725.1:p.Asp614His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906550"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2086,
          "referenceAllele": "G",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000392302.7:c.1840G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376120.3:p.Asp614His",
        "hgvsWellDefined": "ENSP00000376120.3:p.Asp614His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1930,
          "referenceAllele": "G",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000497019.7:c.*612G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436804.2:n.*612G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2090,
          "referenceAllele": "G",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000524377.7:c.2020G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431418.1:p.Asp674His",
        "hgvsWellDefined": "ENSP00000431418.1:p.Asp674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758849",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524377.7:c.2020G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002529.4:c.2020G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431418.1:p.Asp674His"
          },
          "RefSeq": {
            "hgvs": "NP_002520.2:p.Asp674His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2211,
          "referenceAllele": "G",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000674537.1:c.1840G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502725.1:p.Asp614His",
        "hgvsWellDefined": "ENSP00000502725.1:p.Asp614His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2052,
          "referenceAllele": "G",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000358660.3:c.2011G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351486.3:p.Asp671His",
        "hgvsWellDefined": "ENSP00000351486.3:p.Asp671His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2122,
          "referenceAllele": "G",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000368196.7:c.2002G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357179.3:p.Asp668His",
        "hgvsWellDefined": "ENSP00000357179.3:p.Asp668His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2086,
          "referenceAllele": "G",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000392302.6:c.1912G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376120.2:p.Asp638His",
        "hgvsWellDefined": "ENSP00000376120.2:p.Asp638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1930,
          "referenceAllele": "G",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000497019.6:c.*612G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436804.1:n.*612G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "referenceAllele": "G",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000524377.5:c.2020G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431418.1:p.Asp674His",
        "hgvsWellDefined": "ENSP00000431418.1:p.Asp674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2473,
          "referenceAllele": "G",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "ENST00000530298.5:n.2473G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_001007792.1:c.1912G>C",
        "LRG_261t1:c.1912G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007793.1:p.Asp638His",
        "hgvsWellDefined": "NP_001007793.1:p.Asp638His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "G",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_001012331.1:c.2002G>C",
        "LRG_261t2:c.2002G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012331.1:p.Asp668His",
        "hgvsWellDefined": "NP_001012331.1:p.Asp668His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063906526",
      "coordinates": [
        {
          "allele": "C",
          "end": 2076,
          "referenceAllele": "G",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_002529.3:c.2020G>C",
        "LRG_261t3:c.2020G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002520.2:p.Asp674His",
        "hgvsWellDefined": "NP_002520.2:p.Asp674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2072,
          "referenceAllele": "G",
          "start": 2071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_001012331.2:c.2002G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012331.1:p.Asp668His",
        "hgvsWellDefined": "NP_001012331.1:p.Asp668His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063906526",
      "coordinates": [
        {
          "allele": "C",
          "end": 2090,
          "referenceAllele": "G",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NM_002529.4:c.2020G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002520.2:p.Asp674His",
        "hgvsWellDefined": "NP_002520.2:p.Asp674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524377.7:c.2020G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002529.4:c.2020G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431418.1:p.Asp674His"
          },
          "RefSeq": {
            "hgvs": "NP_002520.2:p.Asp674His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}