{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA806671",
  "communityStandardTitle": [
    "NM_005373.3(MPL):c.407C>A (p.Pro136His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1486576[alleleid]",
        "alleleId": 1486576,
        "preferredName": "NM_005373.3(MPL):c.407C>A (p.Pro136His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1379348",
        "RCV": [
          "RCV001891969"
        ],
        "variationId": 1379348
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-43804957-C-A",
        "id": "1-43804957-C-A",
        "variant": "1:43804957 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43804957C>A?assembly=hg19",
        "id": "chr1:g.43804957C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43339286C>A?assembly=hg38",
        "id": "chr1:g.43339286C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764904424",
        "rs": 764904424
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43804957-C-A?dataset=gnomad_r2_1",
        "id": "1-43804957-C-A",
        "variant": "1:43804957 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43339286-C-A?dataset=gnomad_r3",
        "id": "1-43339286-C-A",
        "variant": "1:43339286 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43339286-C-A?dataset=gnomad_r4",
        "id": "1-43339286-C-A",
        "variant": "1:43339286 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 43339286,
          "referenceAllele": "C",
          "start": 43339285
        }
      ],
      "hgvs": [
        "NC_000001.11:g.43339286C>A",
        "CM000663.2:g.43339286C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 43804957,
          "referenceAllele": "C",
          "start": 43804956
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43804957C>A",
        "CM000663.1:g.43804957C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 43577544,
          "referenceAllele": "C",
          "start": 43577543
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43577544C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6483,
          "referenceAllele": "C",
          "start": 6482
        }
      ],
      "hgvs": [
        "NG_007525.1:g.6483C>A",
        "LRG_510:g.6483C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000633"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000372470.9:c.407C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361548.3:p.Pro136His",
        "hgvsWellDefined": "ENSP00000361548.3:p.Pro136His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372470.9:c.407C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005373.3:c.407C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361548.3:p.Pro136His"
          },
          "RefSeq": {
            "hgvs": "NP_005364.1:p.Pro136His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000413998.7:c.386C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414004.3:p.Pro129His",
        "hgvsWellDefined": "ENSP00000414004.3:p.Pro129His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000638732.1:n.407C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "C",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000372470.7:c.407C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361548.3:p.Pro136His",
        "hgvsWellDefined": "ENSP00000361548.3:p.Pro136His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000413998.6:c.407C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414004.2:p.Pro136His",
        "hgvsWellDefined": "ENSP00000414004.2:p.Pro136His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "ENST00000612993.1:c.407C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480273.1:p.Pro136His",
        "hgvsWellDefined": "ENSP00000480273.1:p.Pro136His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573243803",
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "referenceAllele": "C",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "NM_005373.2:c.407C>A",
        "LRG_510t1:c.407C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005364.1:p.Pro136His",
        "hgvsWellDefined": "NP_005364.1:p.Pro136His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "C",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "XM_011541478.1:c.386C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539780.1:p.Pro129His",
        "hgvsWellDefined": "XP_011539780.1:p.Pro129His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "XM_017001320.1:c.578C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856809.1:p.Pro193His",
        "hgvsWellDefined": "XP_016856809.1:p.Pro193His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557522"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573243803",
      "coordinates": [
        {
          "allele": "A",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007217",
      "geneNCBI_id": 4352,
      "geneSymbol": "MPL",
      "hgvs": [
        "NM_005373.3:c.407C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005364.1:p.Pro136His",
        "hgvsWellDefined": "NP_005364.1:p.Pro136His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372470.9:c.407C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005373.3:c.407C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361548.3:p.Pro136His"
          },
          "RefSeq": {
            "hgvs": "NP_005364.1:p.Pro136His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}