{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15386490",
  "communityStandardTitle": [
    "NM_005921.2(MAP3K1):c.483-18151A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=521844[alleleid]",
        "alleleId": 521844,
        "preferredName": "NM_005921.2(MAP3K1):c.483-18151A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/539066",
        "RCV": [
          "RCV000648708"
        ],
        "variationId": 539066
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.56134276A>G?assembly=hg19",
        "id": "chr5:g.56134276A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.56838449A>G?assembly=hg38",
        "id": "chr5:g.56838449A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16886397",
        "rs": 16886397
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-56134276-A-G?dataset=gnomad_r2_1",
        "id": "5-56134276-A-G",
        "variant": "5:56134276 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-56838449-A-G?dataset=gnomad_r3",
        "id": "5-56838449-A-G",
        "variant": "5:56838449 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-56838449-A-G?dataset=gnomad_r4",
        "id": "5-56838449-A-G",
        "variant": "5:56838449 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 56838449,
          "referenceAllele": "A",
          "start": 56838448
        }
      ],
      "hgvs": [
        "NC_000005.10:g.56838449A>G",
        "CM000667.2:g.56838449A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 56134276,
          "referenceAllele": "A",
          "start": 56134275
        }
      ],
      "hgvs": [
        "NC_000005.9:g.56134276A>G",
        "CM000667.1:g.56134276A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 56170033,
          "referenceAllele": "A",
          "start": 56170032
        }
      ],
      "hgvs": [
        "NC_000005.8:g.56170033A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28377,
          "referenceAllele": "A",
          "start": 28376
        }
      ],
      "hgvs": [
        "NG_031884.1:g.28377A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005014"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "endIntronDirection": "-",
          "endIntronOffset": 18150,
          "referenceAllele": "A",
          "start": 507,
          "startIntronDirection": "-",
          "startIntronOffset": 18151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "ENST00000399503.4:c.483-18151A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382423.3:n.483-18151A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399503.4:c.483-18151A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005921.2:c.483-18151A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382423.3:n.483-18151A>G"
          },
          "RefSeq": {
            "hgvs": "NP_005912.1:n.483-18151A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 18150,
          "referenceAllele": "A",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 18151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "ENST00000399503.3:c.483-18151A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382423.3:n.483-18151A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 983,
          "endIntronDirection": "-",
          "endIntronOffset": 18150,
          "referenceAllele": "A",
          "start": 983,
          "startIntronDirection": "-",
          "startIntronOffset": 18151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "NM_005921.1:c.483-18151A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005912.1:n.483-18151A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 119,
          "endIntronDirection": "+",
          "endIntronOffset": 17633,
          "referenceAllele": "A",
          "start": 119,
          "startIntronDirection": "+",
          "startIntronOffset": 17632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_005248519.3:c.104+17633A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248576.2:n.104+17633A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "endIntronDirection": "-",
          "endIntronOffset": 18150,
          "referenceAllele": "A",
          "start": 256,
          "startIntronDirection": "-",
          "startIntronOffset": 18151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_011543406.1:c.228-18151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541708.1:n.228-18151A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 18150,
          "referenceAllele": "A",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 18151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_011543407.1:c.483-18151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541709.1:n.483-18151A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 18150,
          "referenceAllele": "A",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 18151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_011543408.1:c.483-18151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541710.1:n.483-18151A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3694,
          "endIntronDirection": "+",
          "endIntronOffset": 17633,
          "referenceAllele": "A",
          "start": 3694,
          "startIntronDirection": "+",
          "startIntronOffset": 17632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_017009484.1:c.71+17633A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864973.1:n.71+17633A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563792"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "endIntronDirection": "-",
          "endIntronOffset": 18150,
          "referenceAllele": "A",
          "start": 422,
          "startIntronDirection": "-",
          "startIntronOffset": 18151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XM_017009485.1:c.-7-18151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864974.1:n.-7-18151A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "endIntronDirection": "-",
          "endIntronOffset": 18150,
          "referenceAllele": "A",
          "start": 513,
          "startIntronDirection": "-",
          "startIntronOffset": 18151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "XR_001742068.2:n.514-18151A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "endIntronDirection": "-",
          "endIntronOffset": 18150,
          "referenceAllele": "A",
          "start": 507,
          "startIntronDirection": "-",
          "startIntronOffset": 18151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "NM_005921.2:c.483-18151A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005912.1:n.483-18151A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399503.4:c.483-18151A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005921.2:c.483-18151A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382423.3:n.483-18151A>G"
          },
          "RefSeq": {
            "hgvs": "NP_005912.1:n.483-18151A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}