{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1248750965",
  "communityStandardTitle": [
    "NM_000145.4(FSHR):c.1801C= (p.Leu601=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833513",
        "rs": 386833513
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 48963020,
          "referenceAllele": "G",
          "start": 48963019
        }
      ],
      "hgvs": [
        "NC_000002.12:g.48963020G=",
        "CM000664.2:g.48963020G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 49190159,
          "referenceAllele": "G",
          "start": 49190158
        }
      ],
      "hgvs": [
        "NC_000002.11:g.49190159G=",
        "CM000664.1:g.49190159G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 49043663,
          "referenceAllele": "G",
          "start": 49043662
        }
      ],
      "hgvs": [
        "NC_000002.10:g.49043663G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 196472,
          "referenceAllele": "C",
          "start": 196471
        }
      ],
      "hgvs": [
        "NG_008146.1:g.196472C=",
        "LRG_536:g.196472C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000892"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1899,
          "referenceAllele": "C",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.7:c.1801C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:p.Leu601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.1801C="
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.1801C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:p.Leu601="
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:p.Leu601="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1787,
          "referenceAllele": "C",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000304421.8:c.1723C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306780.4:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1921,
          "referenceAllele": "C",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.6:c.1801C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:p.Leu601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066671274",
      "coordinates": [
        {
          "allele": "C",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.3:c.1801C=",
        "LRG_536t1:c.1801C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:p.Leu601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1833,
          "referenceAllele": "C",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.2:c.1723C="
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.1:c.1903C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:p.Leu635="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2264,
          "referenceAllele": "C",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.1:c.1570C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:p.Leu524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532735.1:c.1009C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531037.1:p.Leu337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2134,
          "referenceAllele": "C",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532736.1:c.1009C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531038.1:p.Leu337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 5678,
          "referenceAllele": "C",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 5677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532737.1:c.956+5678C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531039.1:n.956+5678C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 5678,
          "referenceAllele": "C",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 5677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532738.1:c.956+5678C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531040.1:n.956+5678C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 5678,
          "referenceAllele": "C",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 5677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532739.1:c.956+5678C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531041.1:n.956+5678C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.2:c.1903C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:p.Leu635="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2264,
          "referenceAllele": "C",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.2:c.1570C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:p.Leu524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532735.2:c.1009C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531037.1:p.Leu337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2668,
          "referenceAllele": "C",
          "start": 2667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532736.2:c.1009C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531038.1:p.Leu337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066671274",
      "coordinates": [
        {
          "allele": "C",
          "end": 1899,
          "referenceAllele": "C",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.4:c.1801C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:p.Leu601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.1801C="
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.1801C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:p.Leu601="
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:p.Leu601="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1821,
          "referenceAllele": "C",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.3:c.1723C="
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:p.Leu575="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700944"
    }
  ],
  "type": "nucleotide"
}