{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA011498",
  "communityStandardTitle": [
    "NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175632[alleleid]",
        "alleleId": 175632,
        "preferredName": "NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/177626",
        "RCV": [
          "RCV000223832",
          "RCV000628842",
          "RCV002415653",
          "RCV003479022"
        ],
        "variationId": 177626
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-23896451-T-C",
        "id": "14-23896451-T-C",
        "variant": "14:23896451 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23896451T>C?assembly=hg19",
        "id": "chr14:g.23896451T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23427242T>C?assembly=hg38",
        "id": "chr14:g.23427242T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727504239",
        "rs": 727504239
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23427242-T-C?dataset=gnomad_r3",
        "id": "14-23427242-T-C",
        "variant": "14:23427242 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23427242-T-C?dataset=gnomad_r4",
        "id": "14-23427242-T-C",
        "variant": "14:23427242 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 23427242,
          "referenceAllele": "T",
          "start": 23427241
        }
      ],
      "hgvs": [
        "NC_000014.9:g.23427242T>C",
        "CM000676.2:g.23427242T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 23896451,
          "referenceAllele": "T",
          "start": 23896450
        }
      ],
      "hgvs": [
        "NC_000014.8:g.23896451T>C",
        "CM000676.1:g.23896451T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 22966291,
          "referenceAllele": "T",
          "start": 22966290
        }
      ],
      "hgvs": [
        "NC_000014.7:g.22966291T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13420,
          "referenceAllele": "A",
          "start": 13419
        }
      ],
      "hgvs": [
        "NG_007884.1:g.13420A>G",
        "LRG_384:g.13420A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000691"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "A",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "ENST00000355349.4:c.1954A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347507.3:p.Arg652Gly",
        "hgvsWellDefined": "ENSP00000347507.3:p.Arg652Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748658",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355349.4:c.1954A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000257.4:c.1954A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347507.3:p.Arg652Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000248.2:p.Arg652Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2117,
          "referenceAllele": "A",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "ENST00000355349.3:c.1954A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347507.3:p.Arg652Gly",
        "hgvsWellDefined": "ENSP00000347507.3:p.Arg652Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273396",
      "coordinates": [
        {
          "allele": "G",
          "end": 2085,
          "referenceAllele": "A",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "NM_000257.3:c.1954A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000248.2:p.Arg652Gly",
        "hgvsWellDefined": "NP_000248.2:p.Arg652Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2060,
          "referenceAllele": "A",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "XR_245686.3:n.2060A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2020,
          "referenceAllele": "A",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "XM_017021340.1:c.1954A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876829.1:p.Arg652Gly",
        "hgvsWellDefined": "XP_016876829.1:p.Arg652Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273396",
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "A",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "NM_000257.4:c.1954A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000248.2:p.Arg652Gly",
        "hgvsWellDefined": "NP_000248.2:p.Arg652Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662372",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355349.4:c.1954A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000257.4:c.1954A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347507.3:p.Arg652Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000248.2:p.Arg652Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}