{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10210586",
  "communityStandardTitle": [
    "NM_002473.6(MYH9):c.585G>A (p.Ala195=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=276217",
        "active": true,
        "id": "COSM276217"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=352513[alleleid]",
        "alleleId": 352513,
        "preferredName": "NM_002473.6(MYH9):c.585G>A (p.Ala195=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/341532",
        "RCV": [
          "RCV000263004",
          "RCV000315837",
          "RCV002523223"
        ],
        "variationId": 341532
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-36722640-C-T",
        "id": "22-36722640-C-T",
        "variant": "22:36722640 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36722640C>T?assembly=hg19",
        "id": "chr22:g.36722640C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36326595C>T?assembly=hg38",
        "id": "chr22:g.36326595C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374395918",
        "rs": 374395918
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36722640-C-T?dataset=gnomad_r2_1",
        "id": "22-36722640-C-T",
        "variant": "22:36722640 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36326595-C-T?dataset=gnomad_r3",
        "id": "22-36326595-C-T",
        "variant": "22:36326595 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36326595-C-T?dataset=gnomad_r4",
        "id": "22-36326595-C-T",
        "variant": "22:36326595 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 36326595,
          "referenceAllele": "C",
          "start": 36326594
        }
      ],
      "hgvs": [
        "NC_000022.11:g.36326595C>T",
        "CM000684.2:g.36326595C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 36722640,
          "referenceAllele": "C",
          "start": 36722639
        }
      ],
      "hgvs": [
        "NC_000022.10:g.36722640C>T",
        "CM000684.1:g.36722640C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 35052586,
          "referenceAllele": "C",
          "start": 35052585
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35052586C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66424,
          "referenceAllele": "G",
          "start": 66423
        }
      ],
      "hgvs": [
        "NG_011884.2:g.66424G>A",
        "LRG_567:g.66424G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002047"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685187.1:n.799G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685191.1:n.808G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685801.1:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510688.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000688137.1:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510189.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831457"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000691296.1:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509816.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000691687.1:n.799G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000692930.1:n.799G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.11:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.6:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.585G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.585G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Ala195="
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Ala195="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.9:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.5:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "G",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000401701.1:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384631.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000463027.1:n.189G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829393269",
      "coordinates": [
        {
          "allele": "A",
          "end": 865,
          "referenceAllele": "G",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.5:c.585G>A",
        "LRG_567t1:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.1:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.2:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028803.1:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884292.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028804.1:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884293.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028805.1:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884294.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028806.1:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884295.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829393269",
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.6:c.585G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Ala195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.585G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.585G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Ala195="
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Ala195="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}