{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA021922",
  "communityStandardTitle": [
    "NM_000363.5(TNNI3):c.562G>A (p.Val188Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45544[alleleid]",
        "alleleId": 45544,
        "preferredName": "NM_000363.5(TNNI3):c.562G>A (p.Val188Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36883",
        "RCV": [
          "RCV000159240",
          "RCV000625703",
          "RCV002513269",
          "RCV004018691"
        ],
        "variationId": 36883
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55663273C>T?assembly=hg19",
        "id": "chr19:g.55663273C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.55151905C>T?assembly=hg38",
        "id": "chr19:g.55151905C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922409",
        "rs": 193922409
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-55151905-C-T?dataset=gnomad_r4",
        "id": "19-55151905-C-T",
        "variant": "19:55151905 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55151905,
          "referenceAllele": "C",
          "start": 55151904
        }
      ],
      "hgvs": [
        "NC_000019.10:g.55151905C>T",
        "CM000681.2:g.55151905C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55663273,
          "referenceAllele": "C",
          "start": 55663272
        }
      ],
      "hgvs": [
        "NC_000019.9:g.55663273C>T",
        "CM000681.1:g.55663273C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 60355085,
          "referenceAllele": "C",
          "start": 60355084
        }
      ],
      "hgvs": [
        "NC_000019.8:g.60355085C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10828,
          "referenceAllele": "G",
          "start": 10827
        }
      ],
      "hgvs": [
        "NG_007866.2:g.10828G>A",
        "LRG_432:g.10828G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2334,
          "referenceAllele": "G",
          "start": 2333
        }
      ],
      "hgvs": [
        "NG_011829.2:g.2334G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.10:c.562G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Val188Met",
        "hgvsWellDefined": "ENSP00000341838.5:p.Val188Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.562G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.562G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Val188Met"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Val188Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000665070.1:c.595G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499482.1:p.Val199Met",
        "hgvsWellDefined": "ENSP00000499482.1:p.Val199Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000344887.9:c.562G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341838.5:p.Val188Met",
        "hgvsWellDefined": "ENSP00000341838.5:p.Val188Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000585806.5:n.561G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000588882.1:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466729.1:p.Val163Met",
        "hgvsWellDefined": "ENSP00000466729.1:p.Val163Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "ENST00000589864.1:n.390G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391790"
    },
    {
      "@id": "http://reg.genome.network/allele/PA260561",
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.4:c.562G>A",
        "LRG_432t1:c.562G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Val188Met",
        "hgvsWellDefined": "NP_000354.4:p.Val188Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006425"
    },
    {
      "@id": "http://reg.genome.network/allele/PA260561",
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011947",
      "geneNCBI_id": 7137,
      "geneSymbol": "TNNI3",
      "hgvs": [
        "NM_000363.5:c.562G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000354.4:p.Val188Met",
        "hgvsWellDefined": "NP_000354.4:p.Val188Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344887.10:c.562G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000363.5:c.562G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341838.5:p.Val188Met"
          },
          "RefSeq": {
            "hgvs": "NP_000354.4:p.Val188Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}