{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1248751380",
  "communityStandardTitle": [
    "NM_000145.4(FSHR):c.919G= (p.Ala307=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6165",
        "rs": 6165
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 48963902,
          "referenceAllele": "C",
          "start": 48963901
        }
      ],
      "hgvs": [
        "NC_000002.12:g.48963902C=",
        "CM000664.2:g.48963902C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 49191041,
          "referenceAllele": "C",
          "start": 49191040
        }
      ],
      "hgvs": [
        "NC_000002.11:g.49191041C=",
        "CM000664.1:g.49191041C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 49044545,
          "referenceAllele": "C",
          "start": 49044544
        }
      ],
      "hgvs": [
        "NC_000002.10:g.49044545C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195590,
          "referenceAllele": "G",
          "start": 195589
        }
      ],
      "hgvs": [
        "NG_008146.1:g.195590G=",
        "LRG_536:g.195590G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000892"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "G",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.7:c.919G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:p.Ala307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.919G="
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.919G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:p.Ala307="
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:p.Ala307="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000304421.8:c.841G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306780.4:p.Ala281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "referenceAllele": "G",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.6:c.919G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:p.Ala307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000454032.5:c.733G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415504.1:p.Ala245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302387"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066499354",
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.3:c.919G=",
        "LRG_536t1:c.919G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:p.Ala307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 951,
          "referenceAllele": "G",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.2:c.841G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:p.Ala281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:p.Ala341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099759"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.1:c.688G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:p.Ala230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532735.1:c.127G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531037.1:p.Ala43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532736.1:c.127G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531038.1:p.Ala43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 4796,
          "referenceAllele": "G",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 4795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532737.1:c.956+4796G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531039.1:n.956+4796G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 4796,
          "referenceAllele": "G",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 4795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532738.1:c.956+4796G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531040.1:n.956+4796G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 4796,
          "referenceAllele": "G",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 4795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532739.1:c.956+4796G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531041.1:n.956+4796G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:p.Ala341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.2:c.688G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:p.Ala230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 712,
          "referenceAllele": "G",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532735.2:c.127G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531037.1:p.Ala43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1786,
          "referenceAllele": "G",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532736.2:c.127G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531038.1:p.Ala43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066499354",
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "G",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.4:c.919G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:p.Ala307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.919G="
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.919G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:p.Ala307="
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:p.Ala307="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.3:c.841G="
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:p.Ala281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700944"
    }
  ],
  "type": "nucleotide"
}