{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144121",
  "communityStandardTitle": [
    "NM_000145.4(FSHR):c.1724C>T (p.Ala575Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70670[alleleid]",
        "alleleId": 70670,
        "preferredName": "NM_000145.4(FSHR):c.1724C>T (p.Ala575Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56031",
        "RCV": [
          "RCV000049440"
        ],
        "variationId": 56031
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.49190236G>A?assembly=hg19",
        "id": "chr2:g.49190236G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48963097G>A?assembly=hg38",
        "id": "chr2:g.48963097G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833511",
        "rs": 386833511
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48963097,
          "referenceAllele": "G",
          "start": 48963096
        }
      ],
      "hgvs": [
        "NC_000002.12:g.48963097G>A",
        "CM000664.2:g.48963097G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 49190236,
          "referenceAllele": "G",
          "start": 49190235
        }
      ],
      "hgvs": [
        "NC_000002.11:g.49190236G>A",
        "CM000664.1:g.49190236G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 49043740,
          "referenceAllele": "G",
          "start": 49043739
        }
      ],
      "hgvs": [
        "NC_000002.10:g.49043740G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196395,
          "referenceAllele": "C",
          "start": 196394
        }
      ],
      "hgvs": [
        "NG_008146.1:g.196395C>T",
        "LRG_536:g.196395C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000892"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1822,
          "referenceAllele": "C",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.7:c.1724C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:p.Ala575Val",
        "hgvsWellDefined": "ENSP00000384708.2:p.Ala575Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.1724C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.1724C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:p.Ala575Val"
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:p.Ala575Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1710,
          "referenceAllele": "C",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000304421.8:c.1646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306780.4:p.Ala549Val",
        "hgvsWellDefined": "ENSP00000306780.4:p.Ala549Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1844,
          "referenceAllele": "C",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.6:c.1724C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:p.Ala575Val",
        "hgvsWellDefined": "ENSP00000384708.2:p.Ala575Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144123",
      "coordinates": [
        {
          "allele": "T",
          "end": 1834,
          "referenceAllele": "C",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.3:c.1724C>T",
        "LRG_536t1:c.1724C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:p.Ala575Val",
        "hgvsWellDefined": "NP_000136.2:p.Ala575Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830358182",
      "coordinates": [
        {
          "allele": "T",
          "end": 1756,
          "referenceAllele": "C",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.2:c.1646C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:p.Ala549Val",
        "hgvsWellDefined": "NP_852111.2:p.Ala549Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1924,
          "referenceAllele": "C",
          "start": 1923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.1:c.1826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:p.Ala609Val",
        "hgvsWellDefined": "XP_011531035.1:p.Ala609Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2187,
          "referenceAllele": "C",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.1:c.1493C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:p.Ala498Val",
        "hgvsWellDefined": "XP_011531036.1:p.Ala498Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532735.1:c.932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531037.1:p.Ala311Val",
        "hgvsWellDefined": "XP_011531037.1:p.Ala311Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2057,
          "referenceAllele": "C",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532736.1:c.932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531038.1:p.Ala311Val",
        "hgvsWellDefined": "XP_011531038.1:p.Ala311Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 5601,
          "referenceAllele": "C",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 5600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532737.1:c.956+5601C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531039.1:n.956+5601C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 5601,
          "referenceAllele": "C",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 5600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532738.1:c.956+5601C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531040.1:n.956+5601C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 5601,
          "referenceAllele": "C",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 5600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532739.1:c.956+5601C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531041.1:n.956+5601C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1924,
          "referenceAllele": "C",
          "start": 1923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.2:c.1826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:p.Ala609Val",
        "hgvsWellDefined": "XP_011531035.1:p.Ala609Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2187,
          "referenceAllele": "C",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.2:c.1493C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:p.Ala498Val",
        "hgvsWellDefined": "XP_011531036.1:p.Ala498Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532735.2:c.932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531037.1:p.Ala311Val",
        "hgvsWellDefined": "XP_011531037.1:p.Ala311Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2591,
          "referenceAllele": "C",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532736.2:c.932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531038.1:p.Ala311Val",
        "hgvsWellDefined": "XP_011531038.1:p.Ala311Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144123",
      "coordinates": [
        {
          "allele": "T",
          "end": 1822,
          "referenceAllele": "C",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.4:c.1724C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:p.Ala575Val",
        "hgvsWellDefined": "NP_000136.2:p.Ala575Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.1724C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.1724C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:p.Ala575Val"
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:p.Ala575Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830358182",
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.3:c.1646C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:p.Ala549Val",
        "hgvsWellDefined": "NP_852111.2:p.Ala549Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700944"
    }
  ],
  "type": "nucleotide"
}