{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10209676",
  "communityStandardTitle": [
    "NM_002473.6(MYH9):c.3453G>A (p.Thr1151=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=891226[alleleid]",
        "alleleId": 891226,
        "preferredName": "NM_002473.6(MYH9):c.3453G>A (p.Thr1151=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/899933",
        "RCV": [
          "RCV001144827",
          "RCV001144828",
          "RCV002557096"
        ],
        "variationId": 899933
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-36691583-C-T",
        "id": "22-36691583-C-T",
        "variant": "22:36691583 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36691583C>T?assembly=hg19",
        "id": "chr22:g.36691583C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36295537C>T?assembly=hg38",
        "id": "chr22:g.36295537C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/574230328",
        "rs": 574230328
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36691583-C-T?dataset=gnomad_r2_1",
        "id": "22-36691583-C-T",
        "variant": "22:36691583 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36295537-C-T?dataset=gnomad_r3",
        "id": "22-36295537-C-T",
        "variant": "22:36295537 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36295537-C-T?dataset=gnomad_r4",
        "id": "22-36295537-C-T",
        "variant": "22:36295537 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 36295537,
          "referenceAllele": "C",
          "start": 36295536
        }
      ],
      "hgvs": [
        "NC_000022.11:g.36295537C>T",
        "CM000684.2:g.36295537C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 36691583,
          "referenceAllele": "C",
          "start": 36691582
        }
      ],
      "hgvs": [
        "NC_000022.10:g.36691583C>T",
        "CM000684.1:g.36691583C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 35021529,
          "referenceAllele": "C",
          "start": 35021528
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35021529C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 97482,
          "referenceAllele": "G",
          "start": 97481
        }
      ],
      "hgvs": [
        "NG_011884.2:g.97482G>A",
        "LRG_567:g.97482G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002047"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3730,
          "referenceAllele": "G",
          "start": 3729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685801.1:c.3516G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510688.1:p.Thr1172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3748,
          "referenceAllele": "G",
          "start": 3747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000691109.1:n.3748G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3633,
          "referenceAllele": "G",
          "start": 3632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.11:c.3453G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.6:p.Thr1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.3453G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.3453G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Thr1151="
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Thr1151="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3684,
          "referenceAllele": "G",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.9:c.3453G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.5:p.Thr1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000459960.1:n.662G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829393743",
      "coordinates": [
        {
          "allele": "A",
          "end": 3733,
          "referenceAllele": "G",
          "start": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.5:c.3453G>A",
        "LRG_567t1:c.3453G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Thr1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3588,
          "referenceAllele": "G",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.1:c.3453G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Thr1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3588,
          "referenceAllele": "G",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.2:c.3453G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Thr1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3488,
          "referenceAllele": "G",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028803.1:c.3453G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884292.1:p.Thr1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3488,
          "referenceAllele": "G",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028804.1:c.3453G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884293.1:p.Thr1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3488,
          "referenceAllele": "G",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028805.1:c.3453G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884294.1:p.Thr1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3488,
          "referenceAllele": "G",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028806.1:c.3453G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884295.1:p.Thr1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829393743",
      "coordinates": [
        {
          "allele": "A",
          "end": 3633,
          "referenceAllele": "G",
          "start": 3632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.6:c.3453G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Thr1151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.3453G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.3453G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Thr1151="
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Thr1151="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}