{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8387282",
  "communityStandardTitle": [
    "NM_002472.3(MYH8):c.4433G>A (p.Arg1478His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1216248",
        "active": true,
        "id": "COSM1216248"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=336974[alleleid]",
        "alleleId": 336974,
        "preferredName": "NM_002472.3(MYH8):c.4433G>A (p.Arg1478His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/321631",
        "RCV": [
          "RCV000274687"
        ],
        "variationId": 321631
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-10299965-C-T",
        "id": "17-10299965-C-T",
        "variant": "17:10299965 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.10299965C>T?assembly=hg19",
        "id": "chr17:g.10299965C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.10396648C>T?assembly=hg38",
        "id": "chr17:g.10396648C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201586936",
        "rs": 201586936
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-10299965-C-T?dataset=gnomad_r2_1",
        "id": "17-10299965-C-T",
        "variant": "17:10299965 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-10396648-C-T?dataset=gnomad_r3",
        "id": "17-10396648-C-T",
        "variant": "17:10396648 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-10396648-C-T?dataset=gnomad_r4",
        "id": "17-10396648-C-T",
        "variant": "17:10396648 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 10396648,
          "referenceAllele": "C",
          "start": 10396647
        }
      ],
      "hgvs": [
        "NC_000017.11:g.10396648C>T",
        "CM000679.2:g.10396648C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 10299965,
          "referenceAllele": "C",
          "start": 10299964
        }
      ],
      "hgvs": [
        "NC_000017.10:g.10299965C>T",
        "CM000679.1:g.10299965C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 10240690,
          "referenceAllele": "C",
          "start": 10240689
        }
      ],
      "hgvs": [
        "NC_000017.9:g.10240690C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30303,
          "referenceAllele": "G",
          "start": 30302
        }
      ],
      "hgvs": [
        "NG_013015.1:g.30303G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002662"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4528,
          "referenceAllele": "G",
          "start": 4527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007578",
      "geneNCBI_id": 4626,
      "geneSymbol": "MYH8",
      "hgvs": [
        "ENST00000403437.2:c.4433G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384330.2:p.Arg1478His",
        "hgvsWellDefined": "ENSP00000384330.2:p.Arg1478His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403437.2:c.4433G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002472.3:c.4433G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384330.2:p.Arg1478His"
          },
          "RefSeq": {
            "hgvs": "NP_002463.2:p.Arg1478His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389712",
      "coordinates": [
        {
          "allele": "A",
          "end": 4528,
          "referenceAllele": "G",
          "start": 4527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007578",
      "geneNCBI_id": 4626,
      "geneSymbol": "MYH8",
      "hgvs": [
        "NM_002472.2:c.4433G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002463.2:p.Arg1478His",
        "hgvsWellDefined": "NP_002463.2:p.Arg1478His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76,
          "endIntronDirection": "-",
          "endIntronOffset": 9499,
          "referenceAllele": "C",
          "start": 76,
          "startIntronDirection": "-",
          "startIntronOffset": 9500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN050609",
      "geneNCBI_id": 100128560,
      "geneSymbol": "MYHAS",
      "hgvs": [
        "NR_125367.1:n.77-9500C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4603,
          "referenceAllele": "G",
          "start": 4602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007578",
      "geneNCBI_id": 4626,
      "geneSymbol": "MYH8",
      "hgvs": [
        "XM_011523873.1:c.4529G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522175.1:p.Arg1510His",
        "hgvsWellDefined": "XP_011522175.1:p.Arg1510His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4738,
          "referenceAllele": "G",
          "start": 4737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007578",
      "geneNCBI_id": 4626,
      "geneSymbol": "MYH8",
      "hgvs": [
        "XM_011523874.1:c.4529G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522176.1:p.Arg1510His",
        "hgvsWellDefined": "XP_011522176.1:p.Arg1510His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645389712",
      "coordinates": [
        {
          "allele": "A",
          "end": 4528,
          "referenceAllele": "G",
          "start": 4527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007578",
      "geneNCBI_id": 4626,
      "geneSymbol": "MYH8",
      "hgvs": [
        "NM_002472.3:c.4433G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002463.2:p.Arg1478His",
        "hgvsWellDefined": "NP_002463.2:p.Arg1478His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665544",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403437.2:c.4433G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002472.3:c.4433G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384330.2:p.Arg1478His"
          },
          "RefSeq": {
            "hgvs": "NP_002463.2:p.Arg1478His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}