{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339973807",
  "communityStandardTitle": [
    "NM_005373.3(MPL):c.340G>C (p.Val114Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43804340G>C?assembly=hg19",
        "id": "chr1:g.43804340G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43338669G>C?assembly=hg38",
        "id": "chr1:g.43338669G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12731981",
        "rs": 12731981
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 43338669,
          "referenceAllele": "G",
          "start": 43338668
        }
      ],
      "hgvs": [
        "NC_000001.11:g.43338669G>C",
        "CM000663.2:g.43338669G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 43804340,
          "referenceAllele": "G",
          "start": 43804339
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43804340G>C",
        "CM000663.1:g.43804340G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 43576927,
          "referenceAllele": "G",
          "start": 43576926
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43576927G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5866,
          "referenceAllele": "G",
          "start": 5865
        }
      ],
      "hgvs": [
        "NG_007525.1:g.5866G>C",
        "LRG_510:g.5866G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000633"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000372470.9:c.340G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361548.3:p.Val114Leu",
        "hgvsWellDefined": "ENSP00000361548.3:p.Val114Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372470.9:c.340G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005373.3:c.340G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361548.3:p.Val114Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005364.1:p.Val114Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000413998.7:c.319G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414004.3:p.Val107Leu",
        "hgvsWellDefined": "ENSP00000414004.3:p.Val107Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000638732.1:n.340G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000372470.7:c.340G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361548.3:p.Val114Leu",
        "hgvsWellDefined": "ENSP00000361548.3:p.Val114Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000413998.6:c.340G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414004.2:p.Val114Leu",
        "hgvsWellDefined": "ENSP00000414004.2:p.Val114Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000612993.1:c.340G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480273.1:p.Val114Leu",
        "hgvsWellDefined": "ENSP00000480273.1:p.Val114Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063886329",
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "NM_005373.2:c.340G>C",
        "LRG_510t1:c.340G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005364.1:p.Val114Leu",
        "hgvsWellDefined": "NP_005364.1:p.Val114Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "XM_011541478.1:c.319G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539780.1:p.Val107Leu",
        "hgvsWellDefined": "XP_011539780.1:p.Val107Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1485,
          "referenceAllele": "G",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "XM_017001320.1:c.511G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856809.1:p.Val171Leu",
        "hgvsWellDefined": "XP_016856809.1:p.Val171Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063886329",
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "NM_005373.3:c.340G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005364.1:p.Val114Leu",
        "hgvsWellDefined": "NP_005364.1:p.Val114Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372470.9:c.340G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005373.3:c.340G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361548.3:p.Val114Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005364.1:p.Val114Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}