{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8041214",
  "communityStandardTitle": [
    "NM_000293.3(PHKB):c.2427+969C>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=283999",
        "active": true,
        "id": "COSM283999"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1302336[alleleid]",
        "alleleId": 1302336,
        "preferredName": "NM_000293.3(PHKB):c.2427+969C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1311805",
        "RCV": [
          "RCV001752788",
          "RCV002077194"
        ],
        "variationId": 1311805
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-47699855-C-T",
        "id": "16-47699855-C-T",
        "variant": "16:47699855 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.47699855C>T?assembly=hg19",
        "id": "chr16:g.47699855C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.47665944C>T?assembly=hg38",
        "id": "chr16:g.47665944C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1131063",
        "rs": 1131063
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-47699855-C-T?dataset=gnomad_r2_1",
        "id": "16-47699855-C-T",
        "variant": "16:47699855 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-47665944-C-T?dataset=gnomad_r3",
        "id": "16-47665944-C-T",
        "variant": "16:47665944 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-47665944-C-T?dataset=gnomad_r4",
        "id": "16-47665944-C-T",
        "variant": "16:47665944 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 47665944,
          "referenceAllele": "C",
          "start": 47665943
        }
      ],
      "hgvs": [
        "NC_000016.10:g.47665944C>T",
        "CM000678.2:g.47665944C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 47699855,
          "referenceAllele": "C",
          "start": 47699854
        }
      ],
      "hgvs": [
        "NC_000016.9:g.47699855C>T",
        "CM000678.1:g.47699855C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 46257356,
          "referenceAllele": "C",
          "start": 46257355
        }
      ],
      "hgvs": [
        "NC_000016.8:g.46257356C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 209646,
          "referenceAllele": "C",
          "start": 209645
        }
      ],
      "hgvs": [
        "NG_016598.1:g.209646C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2559,
          "referenceAllele": "C",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000696809.1:c.*913C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512887.1:n.*913C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000699276.1:c.2409C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514257.1:p.Val803="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2447,
          "endIntronDirection": "+",
          "endIntronOffset": 969,
          "referenceAllele": "C",
          "start": 2447,
          "startIntronDirection": "+",
          "startIntronOffset": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000323584.10:c.2427+969C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313504.5:n.2427+969C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323584.10:c.2427+969C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000293.3:c.2427+969C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313504.5:n.2427+969C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000284.1:n.2427+969C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2364,
          "referenceAllele": "C",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000299167.12:c.2339C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299167.8:p.Ser780Leu",
        "hgvsWellDefined": "ENSP00000299167.8:p.Ser780Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "endIntronDirection": "+",
          "endIntronOffset": 969,
          "referenceAllele": "C",
          "start": 2451,
          "startIntronDirection": "+",
          "startIntronOffset": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000323584.9:c.2427+969C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313504.5:n.2427+969C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "C",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000566044.5:c.2318C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456729.1:p.Ser773Leu",
        "hgvsWellDefined": "ENSP00000456729.1:p.Ser773Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000566275.2:c.260C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459287.1:p.Ser87Leu",
        "hgvsWellDefined": "ENSP00000459287.1:p.Ser87Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "ENST00000566319.2:n.1155C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2479,
          "endIntronDirection": "+",
          "endIntronOffset": 969,
          "referenceAllele": "C",
          "start": 2479,
          "startIntronDirection": "+",
          "startIntronOffset": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_000293.2:c.2427+969C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000284.1:n.2427+969C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825357205",
      "coordinates": [
        {
          "allele": "T",
          "end": 2503,
          "referenceAllele": "C",
          "start": 2502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001031835.2:c.2318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027005.1:p.Ser773Leu",
        "hgvsWellDefined": "NP_001027005.1:p.Ser773Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255983.3:c.2339C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256040.1:p.Ser780Leu",
        "hgvsWellDefined": "XP_005256040.1:p.Ser780Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2517,
          "referenceAllele": "C",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255984.3:c.2318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256041.1:p.Ser773Leu",
        "hgvsWellDefined": "XP_005256041.1:p.Ser773Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2351,
          "endIntronDirection": "+",
          "endIntronOffset": 2210,
          "referenceAllele": "C",
          "start": 2351,
          "startIntronDirection": "+",
          "startIntronOffset": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_011523106.1:c.2336+2210C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521408.1:n.2336+2210C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_011523107.1:c.917C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521409.1:p.Ser306Leu",
        "hgvsWellDefined": "XP_011521409.1:p.Ser306Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573071700",
      "coordinates": [
        {
          "allele": "T",
          "end": 2391,
          "referenceAllele": "C",
          "start": 2390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001363837.1:c.2339C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350766.1:p.Ser780Leu",
        "hgvsWellDefined": "NP_001350766.1:p.Ser780Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255983.4:c.2339C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256040.1:p.Ser780Leu",
        "hgvsWellDefined": "XP_005256040.1:p.Ser780Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2654,
          "referenceAllele": "C",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_005255984.4:c.2318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256041.1:p.Ser773Leu",
        "hgvsWellDefined": "XP_005256041.1:p.Ser773Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023282.1:c.1226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878771.1:p.Ser409Leu",
        "hgvsWellDefined": "XP_016878771.1:p.Ser409Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2559,
          "referenceAllele": "C",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023283.1:c.917C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878772.1:p.Ser306Leu",
        "hgvsWellDefined": "XP_016878772.1:p.Ser306Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2440,
          "referenceAllele": "C",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XM_017023284.1:c.917C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878773.1:p.Ser306Leu",
        "hgvsWellDefined": "XP_016878773.1:p.Ser306Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2351,
          "endIntronDirection": "+",
          "endIntronOffset": 2210,
          "referenceAllele": "C",
          "start": 2351,
          "startIntronDirection": "+",
          "startIntronOffset": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "XR_001751913.1:n.2351+2210C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2447,
          "endIntronDirection": "+",
          "endIntronOffset": 969,
          "referenceAllele": "C",
          "start": 2447,
          "startIntronDirection": "+",
          "startIntronOffset": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_000293.3:c.2427+969C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000284.1:n.2427+969C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000323584.10:c.2427+969C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000293.3:c.2427+969C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313504.5:n.2427+969C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000284.1:n.2427+969C>T"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825357205",
      "coordinates": [
        {
          "allele": "T",
          "end": 2471,
          "referenceAllele": "C",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NM_001031835.3:c.2318C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027005.1:p.Ser773Leu",
        "hgvsWellDefined": "NP_001027005.1:p.Ser773Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675749"
    }
  ],
  "type": "nucleotide"
}