{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1752441095",
  "communityStandardTitle": [
    "NM_000603.5(NOS3):c.2984+228G>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1808593",
        "rs": 1808593
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 151011214,
          "referenceAllele": "G",
          "start": 151011213
        }
      ],
      "hgvs": [
        "NC_000007.14:g.151011214G>A",
        "CM000669.2:g.151011214G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150708302,
          "referenceAllele": "G",
          "start": 150708301
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150708302G>A",
        "CM000669.1:g.150708302G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150339235,
          "referenceAllele": "G",
          "start": 150339234
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150339235G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25156,
          "referenceAllele": "G",
          "start": 25155
        }
      ],
      "hgvs": [
        "NG_011992.1:g.25156G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18286,
          "referenceAllele": "C",
          "start": 18285
        }
      ],
      "hgvs": [
        "NG_030317.1:g.18286C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004876"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3319,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "G",
          "start": 3319,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000297494.8:c.2984+228G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297494.3:n.2984+228G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297494.8:c.2984+228G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000603.5:c.2984+228G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297494.3:n.2984+228G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000594.2:n.2984+228G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3341,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "G",
          "start": 3341,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000297494.7:c.2984+228G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297494.3:n.2984+228G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2711,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "G",
          "start": 2711,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000461406.5:c.2366+228G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417143.1:n.2366+228G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "G",
          "start": 467,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000468293.5:n.467+228G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "G",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000475017.1:c.865+228G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "G",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000477227.1:n.363+228G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3280,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "G",
          "start": 3280,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_000603.4:c.2984+228G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000594.2:n.2984+228G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3319,
          "endIntronDirection": "+",
          "endIntronOffset": 228,
          "referenceAllele": "G",
          "start": 3319,
          "startIntronDirection": "+",
          "startIntronOffset": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_000603.5:c.2984+228G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000594.2:n.2984+228G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662501",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297494.8:c.2984+228G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000603.5:c.2984+228G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297494.3:n.2984+228G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000594.2:n.2984+228G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}