{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14967836",
  "communityStandardTitle": [
    "NM_002473.6(MYH9):c.1555-216C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1241533[alleleid]",
        "alleleId": 1241533,
        "preferredName": "NM_002473.6(MYH9):c.1555-216C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1251187",
        "RCV": [
          "RCV001655540"
        ],
        "variationId": 1251187
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36708483G>A?assembly=hg19",
        "id": "chr22:g.36708483G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36312438G>A?assembly=hg38",
        "id": "chr22:g.36312438G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5750250",
        "rs": 5750250
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36708483-G-A?dataset=gnomad_r2_1",
        "id": "22-36708483-G-A",
        "variant": "22:36708483 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36312438-G-A?dataset=gnomad_r3",
        "id": "22-36312438-G-A",
        "variant": "22:36312438 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-36312438-G-A?dataset=gnomad_r4",
        "id": "22-36312438-G-A",
        "variant": "22:36312438 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 36312438,
          "referenceAllele": "G",
          "start": 36312437
        }
      ],
      "hgvs": [
        "NC_000022.11:g.36312438G>A",
        "CM000684.2:g.36312438G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 36708483,
          "referenceAllele": "G",
          "start": 36708482
        }
      ],
      "hgvs": [
        "NC_000022.10:g.36708483G>A",
        "CM000684.1:g.36708483G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 35038429,
          "referenceAllele": "G",
          "start": 35038428
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35038429G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80581,
          "referenceAllele": "C",
          "start": 80580
        }
      ],
      "hgvs": [
        "NG_011884.2:g.80581C>T",
        "LRG_567:g.80581C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002047"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1768,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1768,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685187.1:n.1769-216C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1768,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1768,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685801.1:c.1555-216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510688.1:n.1555-216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1849,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000691109.1:n.1850-216C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2352,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 2352,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000691687.1:n.2353-216C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1768,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1768,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000692930.1:n.1769-216C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1734,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.11:c.1555-216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.6:n.1555-216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.1555-216C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.1555-216C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:n.1555-216C>T"
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:n.1555-216C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1785,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.9:c.1555-216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.5:n.1555-216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1834,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1834,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.5:c.1555-216C>T",
        "LRG_567t1:c.1555-216C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:n.1555-216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1689,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.1:c.1555-216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:n.1555-216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1689,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.2:c.1555-216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:n.1555-216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1589,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028803.1:c.1555-216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884292.1:n.1555-216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1589,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028804.1:c.1555-216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884293.1:n.1555-216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1589,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028805.1:c.1555-216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884294.1:n.1555-216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1589,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028806.1:c.1555-216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884295.1:n.1555-216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "endIntronDirection": "-",
          "endIntronOffset": 215,
          "referenceAllele": "C",
          "start": 1734,
          "startIntronDirection": "-",
          "startIntronOffset": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.6:c.1555-216C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:n.1555-216C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.1555-216C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.1555-216C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:n.1555-216C>T"
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:n.1555-216C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}