{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11390342",
  "communityStandardTitle": [
    "NM_001622.4(AHSG):c.759+98T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.186337827T>C?assembly=hg19",
        "id": "chr3:g.186337827T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.186620038T>C?assembly=hg38",
        "id": "chr3:g.186620038T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2518136",
        "rs": 2518136
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-186337827-T-C?dataset=gnomad_r2_1",
        "id": "3-186337827-T-C",
        "variant": "3:186337827 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-186620038-T-C?dataset=gnomad_r3",
        "id": "3-186620038-T-C",
        "variant": "3:186620038 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-186620038-T-C?dataset=gnomad_r4",
        "id": "3-186620038-T-C",
        "variant": "3:186620038 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 186620038,
          "referenceAllele": "T",
          "start": 186620037
        }
      ],
      "hgvs": [
        "NC_000003.12:g.186620038T>C",
        "CM000665.2:g.186620038T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 186337827,
          "referenceAllele": "T",
          "start": 186337826
        }
      ],
      "hgvs": [
        "NC_000003.11:g.186337827T>C",
        "CM000665.1:g.186337827T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 187820521,
          "referenceAllele": "T",
          "start": 187820520
        }
      ],
      "hgvs": [
        "NC_000003.10:g.187820521T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11978,
          "referenceAllele": "T",
          "start": 11977
        }
      ],
      "hgvs": [
        "NG_011436.1:g.11978T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001714"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "endIntronDirection": "+",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 841,
          "startIntronDirection": "+",
          "startIntronOffset": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "ENST00000411641.7:c.759+98T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393887.2:n.759+98T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000411641.7:c.759+98T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001622.4:c.759+98T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000393887.2:n.759+98T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001613.2:n.759+98T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 838,
          "endIntronDirection": "+",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 838,
          "startIntronDirection": "+",
          "startIntronOffset": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "ENST00000273784.5:c.762+98T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000273784.5:n.762+98T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "endIntronDirection": "+",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 978,
          "startIntronDirection": "+",
          "startIntronOffset": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "ENST00000411641.6:c.759+98T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393887.2:n.759+98T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "endIntronDirection": "+",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "+",
          "startIntronOffset": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "NM_001622.2:c.759+98T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001613.2:n.759+98T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "endIntronDirection": "+",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 981,
          "startIntronDirection": "+",
          "startIntronOffset": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "NM_001354571.1:c.762+98T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341500.1:n.762+98T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 975,
          "endIntronDirection": "+",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 975,
          "startIntronDirection": "+",
          "startIntronOffset": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "NM_001354572.1:c.756+98T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341501.1:n.756+98T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 547,
          "referenceAllele": "T",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "NM_001354573.1:c.676-548T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341502.1:n.676-548T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "endIntronDirection": "+",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 978,
          "startIntronDirection": "+",
          "startIntronOffset": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "NM_001622.3:c.759+98T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001613.2:n.759+98T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "endIntronDirection": "+",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 841,
          "startIntronDirection": "+",
          "startIntronOffset": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "NM_001622.4:c.759+98T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001613.2:n.759+98T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665069",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000411641.7:c.759+98T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001622.4:c.759+98T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000393887.2:n.759+98T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001613.2:n.759+98T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "endIntronDirection": "+",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 844,
          "startIntronDirection": "+",
          "startIntronOffset": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "NM_001354571.2:c.762+98T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341500.1:n.762+98T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 838,
          "endIntronDirection": "+",
          "endIntronOffset": 98,
          "referenceAllele": "T",
          "start": 838,
          "startIntronDirection": "+",
          "startIntronOffset": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "NM_001354572.2:c.756+98T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341501.1:n.756+98T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "endIntronDirection": "-",
          "endIntronOffset": 547,
          "referenceAllele": "T",
          "start": 757,
          "startIntronDirection": "-",
          "startIntronOffset": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000349",
      "geneNCBI_id": 197,
      "geneSymbol": "AHSG",
      "hgvs": [
        "NM_001354573.2:c.676-548T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341502.1:n.676-548T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690233"
    }
  ],
  "type": "nucleotide"
}