{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4506452",
  "communityStandardTitle": [
    "NM_001164665.2(KIAA1549):c.2666G>T (p.Gly889Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3762410"
      },
      {
        "active": false,
        "id": "COSM3762411"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1155600[alleleid]",
        "alleleId": 1155600,
        "preferredName": "NM_001164665.2(KIAA1549):c.2666G>T (p.Gly889Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1167364",
        "RCV": [
          "RCV001516497",
          "RCV001730777"
        ],
        "variationId": 1167364
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-138601706-C-A",
        "id": "7-138601706-C-A",
        "variant": "7:138601706 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.138601706C>A?assembly=hg19",
        "id": "chr7:g.138601706C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.138916960C>A?assembly=hg38",
        "id": "chr7:g.138916960C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2354336",
        "rs": 2354336
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-138601706-C-A?dataset=gnomad_r2_1",
        "id": "7-138601706-C-A",
        "variant": "7:138601706 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-138916960-C-A?dataset=gnomad_r3",
        "id": "7-138916960-C-A",
        "variant": "7:138916960 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-138916960-C-A?dataset=gnomad_r4",
        "id": "7-138916960-C-A",
        "variant": "7:138916960 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 138916960,
          "referenceAllele": "C",
          "start": 138916959
        }
      ],
      "hgvs": [
        "NC_000007.14:g.138916960C>A",
        "CM000669.2:g.138916960C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 138601706,
          "referenceAllele": "C",
          "start": 138601705
        }
      ],
      "hgvs": [
        "NC_000007.13:g.138601706C>A",
        "CM000669.1:g.138601706C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 138252246,
          "referenceAllele": "C",
          "start": 138252245
        }
      ],
      "hgvs": [
        "NC_000007.12:g.138252246C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69359,
          "referenceAllele": "G",
          "start": 69358
        }
      ],
      "hgvs": [
        "NG_032965.1:g.69359G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69359,
          "referenceAllele": "G",
          "start": 69358
        }
      ],
      "hgvs": [
        "NG_032965.2:g.69359G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706152"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022219",
      "geneNCBI_id": 57670,
      "geneSymbol": "KIAA1549",
      "hgvs": [
        "ENST00000422774.2:c.2666G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416040.2:p.Gly889Val",
        "hgvsWellDefined": "ENSP00000416040.2:p.Gly889Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754944",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422774.2:c.2666G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164665.2:c.2666G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416040.2:p.Gly889Val"
          },
          "RefSeq": {
            "hgvs": "NP_001158137.1:p.Gly889Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2715,
          "referenceAllele": "G",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022219",
      "geneNCBI_id": 57670,
      "geneSymbol": "KIAA1549",
      "hgvs": [
        "ENST00000422774.1:c.2666G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416040.1:p.Gly889Val",
        "hgvsWellDefined": "ENSP00000416040.1:p.Gly889Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2715,
          "referenceAllele": "G",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022219",
      "geneNCBI_id": 57670,
      "geneSymbol": "KIAA1549",
      "hgvs": [
        "ENST00000440172.5:c.2666G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406661.1:p.Gly889Val",
        "hgvsWellDefined": "ENSP00000406661.1:p.Gly889Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825998618",
      "coordinates": [
        {
          "allele": "T",
          "end": 2715,
          "referenceAllele": "G",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022219",
      "geneNCBI_id": 57670,
      "geneSymbol": "KIAA1549",
      "hgvs": [
        "NM_001164665.1:c.2666G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158137.1:p.Gly889Val",
        "hgvsWellDefined": "NP_001158137.1:p.Gly889Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499286961",
      "coordinates": [
        {
          "allele": "T",
          "end": 2715,
          "referenceAllele": "G",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022219",
      "geneNCBI_id": 57670,
      "geneSymbol": "KIAA1549",
      "hgvs": [
        "NM_020910.2:c.2666G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065961.2:p.Gly889Val",
        "hgvsWellDefined": "NP_065961.2:p.Gly889Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2601,
          "referenceAllele": "G",
          "start": 2600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022219",
      "geneNCBI_id": 57670,
      "geneSymbol": "KIAA1549",
      "hgvs": [
        "XM_011516442.1:c.2585G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514744.1:p.Gly862Val",
        "hgvsWellDefined": "XP_011514744.1:p.Gly862Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2942,
          "referenceAllele": "G",
          "start": 2941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022219",
      "geneNCBI_id": 57670,
      "geneSymbol": "KIAA1549",
      "hgvs": [
        "XM_011516442.2:c.2585G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514744.1:p.Gly862Val",
        "hgvsWellDefined": "XP_011514744.1:p.Gly862Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544164"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825998618",
      "coordinates": [
        {
          "allele": "T",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022219",
      "geneNCBI_id": 57670,
      "geneSymbol": "KIAA1549",
      "hgvs": [
        "NM_001164665.2:c.2666G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158137.1:p.Gly889Val",
        "hgvsWellDefined": "NP_001158137.1:p.Gly889Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422774.2:c.2666G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164665.2:c.2666G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416040.2:p.Gly889Val"
          },
          "RefSeq": {
            "hgvs": "NP_001158137.1:p.Gly889Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499286961",
      "coordinates": [
        {
          "allele": "T",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022219",
      "geneNCBI_id": 57670,
      "geneSymbol": "KIAA1549",
      "hgvs": [
        "NM_020910.3:c.2666G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065961.2:p.Gly889Val",
        "hgvsWellDefined": "NP_065961.2:p.Gly889Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698330"
    }
  ],
  "type": "nucleotide"
}