{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140886938",
  "communityStandardTitle": [
    "NM_014625.4(NPHS2):c.538G= (p.Val180=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315347",
        "rs": 74315347
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 179557227,
          "referenceAllele": "C",
          "start": 179557226
        }
      ],
      "hgvs": [
        "NC_000001.11:g.179557227C=",
        "CM000663.2:g.179557227C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 179526362,
          "referenceAllele": "C",
          "start": 179526361
        }
      ],
      "hgvs": [
        "NC_000001.10:g.179526362C=",
        "CM000663.1:g.179526362C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 177792985,
          "referenceAllele": "C",
          "start": 177792984
        }
      ],
      "hgvs": [
        "NC_000001.9:g.177792985C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23723,
          "referenceAllele": "G",
          "start": 23722
        }
      ],
      "hgvs": [
        "NG_007535.1:g.23723G=",
        "LRG_887:g.23723G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000639"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 622,
          "referenceAllele": "G",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367615.9:c.538G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356587.4:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367615.9:c.538G="
          },
          "RefSeq": {
            "hgvs": "NM_014625.4:c.538G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356587.4:p.Val180="
          },
          "RefSeq": {
            "hgvs": "NP_055440.1:p.Val180="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367615.8:c.538G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356587.4:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 622,
          "endIntronDirection": "+",
          "endIntronOffset": 2452,
          "referenceAllele": "G",
          "start": 622,
          "startIntronDirection": "+",
          "startIntronOffset": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367616.4:c.534+2452G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356588.4:n.534+2452G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 622,
          "endIntronDirection": "+",
          "endIntronOffset": 2452,
          "referenceAllele": "G",
          "start": 622,
          "startIntronDirection": "+",
          "startIntronOffset": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_001297575.1:c.534+2452G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001284504.1:n.534+2452G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900306",
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_014625.3:c.538G=",
        "LRG_887t1:c.538G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055440.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_005245483.2:c.361G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245540.1:p.Val121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_006711529.2:c.538G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711592.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_005245483.3:c.361G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245540.1:p.Val121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 2452,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_017002298.1:c.461+2452G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016857787.1:n.461+2452G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558277"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "endIntronDirection": "+",
          "endIntronOffset": 2452,
          "referenceAllele": "G",
          "start": 657,
          "startIntronDirection": "+",
          "startIntronOffset": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_017002299.1:c.534+2452G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016857788.1:n.534+2452G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "endIntronDirection": "+",
          "endIntronOffset": 2452,
          "referenceAllele": "G",
          "start": 618,
          "startIntronDirection": "+",
          "startIntronOffset": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_001297575.2:c.534+2452G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001284504.1:n.534+2452G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900306",
      "coordinates": [
        {
          "allele": "G",
          "end": 622,
          "referenceAllele": "G",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_014625.4:c.538G="
      ],
      "proteinEffect": {
        "hgvs": "NP_055440.1:p.Val180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697299",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367615.9:c.538G="
          },
          "RefSeq": {
            "hgvs": "NM_014625.4:c.538G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356587.4:p.Val180="
          },
          "RefSeq": {
            "hgvs": "NP_055440.1:p.Val180="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}