{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12640871",
  "communityStandardTitle": [
    "NM_000603.5(NOS3):c.1752+1554C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1215259[alleleid]",
        "alleleId": 1215259,
        "preferredName": "NM_000603.5(NOS3):c.1752+1554C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1227867",
        "RCV": [
          "RCV001611849"
        ],
        "variationId": 1227867
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.150700946C>A?assembly=hg19",
        "id": "chr7:g.150700946C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.151003858C>A?assembly=hg38",
        "id": "chr7:g.151003858C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3918227",
        "rs": 3918227
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-150700946-C-A?dataset=gnomad_r2_1",
        "id": "7-150700946-C-A",
        "variant": "7:150700946 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-151003858-C-A?dataset=gnomad_r3",
        "id": "7-151003858-C-A",
        "variant": "7:151003858 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-151003858-C-A?dataset=gnomad_r4",
        "id": "7-151003858-C-A",
        "variant": "7:151003858 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 151003858,
          "referenceAllele": "C",
          "start": 151003857
        }
      ],
      "hgvs": [
        "NC_000007.14:g.151003858C>A",
        "CM000669.2:g.151003858C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150700946,
          "referenceAllele": "C",
          "start": 150700945
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150700946C>A",
        "CM000669.1:g.150700946C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150331879,
          "referenceAllele": "C",
          "start": 150331878
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150331879C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17800,
          "referenceAllele": "C",
          "start": 17799
        }
      ],
      "hgvs": [
        "NG_011992.1:g.17800C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2087,
          "endIntronDirection": "+",
          "endIntronOffset": 1554,
          "referenceAllele": "C",
          "start": 2087,
          "startIntronDirection": "+",
          "startIntronOffset": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000297494.8:c.1752+1554C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297494.3:n.1752+1554C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297494.8:c.1752+1554C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000603.5:c.1752+1554C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297494.3:n.1752+1554C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000594.2:n.1752+1554C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2109,
          "endIntronDirection": "+",
          "endIntronOffset": 1554,
          "referenceAllele": "C",
          "start": 2109,
          "startIntronDirection": "+",
          "startIntronOffset": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000297494.7:c.1752+1554C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297494.3:n.1752+1554C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 1554,
          "referenceAllele": "C",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000461406.5:c.1134+1554C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417143.1:n.1134+1554C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2300,
          "referenceAllele": "C",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000467517.1:c.2300C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420551.1:n.2300C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2460,
          "referenceAllele": "C",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000484524.5:c.2460C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420215.1:n.2460C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2048,
          "endIntronDirection": "+",
          "endIntronOffset": 1554,
          "referenceAllele": "C",
          "start": 2048,
          "startIntronDirection": "+",
          "startIntronOffset": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_000603.4:c.1752+1554C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000594.2:n.1752+1554C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1954,
          "referenceAllele": "C",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_001160109.1:c.1954C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153581.1:n.1954C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2300,
          "referenceAllele": "C",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_001160110.1:c.2300C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153582.1:n.2300C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2460,
          "referenceAllele": "C",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_001160111.1:c.2460C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153583.1:n.2460C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1805,
          "endIntronDirection": "+",
          "endIntronOffset": 1554,
          "referenceAllele": "C",
          "start": 1805,
          "startIntronDirection": "+",
          "startIntronOffset": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "XM_006716002.2:c.1752+1554C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716065.1:n.1752+1554C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2087,
          "endIntronDirection": "+",
          "endIntronOffset": 1554,
          "referenceAllele": "C",
          "start": 2087,
          "startIntronDirection": "+",
          "startIntronOffset": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_000603.5:c.1752+1554C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000594.2:n.1752+1554C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662501",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297494.8:c.1752+1554C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000603.5:c.1752+1554C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297494.3:n.1752+1554C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000594.2:n.1752+1554C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1976,
          "referenceAllele": "C",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_001160109.2:c.*163C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153581.1:n.*163C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678115"
    }
  ],
  "type": "nucleotide"
}