{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346767215",
  "communityStandardTitle": [
    "NM_000145.4(FSHR):c.1634T>A (p.Ile545Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.49190326A>T?assembly=hg19",
        "id": "chr2:g.49190326A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48963187A>T?assembly=hg38",
        "id": "chr2:g.48963187A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909664",
        "rs": 121909664
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-49190326-A-T?dataset=gnomad_r2_1",
        "id": "2-49190326-A-T",
        "variant": "2:49190326 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-48963187-A-T?dataset=gnomad_r4",
        "id": "2-48963187-A-T",
        "variant": "2:48963187 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 48963187,
          "referenceAllele": "A",
          "start": 48963186
        }
      ],
      "hgvs": [
        "NC_000002.12:g.48963187A>T",
        "CM000664.2:g.48963187A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 49190326,
          "referenceAllele": "A",
          "start": 49190325
        }
      ],
      "hgvs": [
        "NC_000002.11:g.49190326A>T",
        "CM000664.1:g.49190326A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 49043830,
          "referenceAllele": "A",
          "start": 49043829
        }
      ],
      "hgvs": [
        "NC_000002.10:g.49043830A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 196305,
          "referenceAllele": "T",
          "start": 196304
        }
      ],
      "hgvs": [
        "NG_008146.1:g.196305T>A",
        "LRG_536:g.196305T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000892"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "referenceAllele": "T",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.7:c.1634T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:p.Ile545Asn",
        "hgvsWellDefined": "ENSP00000384708.2:p.Ile545Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.1634T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.1634T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:p.Ile545Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:p.Ile545Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1620,
          "referenceAllele": "T",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000304421.8:c.1556T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306780.4:p.Ile519Asn",
        "hgvsWellDefined": "ENSP00000306780.4:p.Ile519Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "T",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "ENST00000406846.6:c.1634T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384708.2:p.Ile545Asn",
        "hgvsWellDefined": "ENSP00000384708.2:p.Ile545Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526485",
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "T",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.3:c.1634T>A",
        "LRG_536t1:c.1634T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:p.Ile545Asn",
        "hgvsWellDefined": "NP_000136.2:p.Ile545Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1666,
          "referenceAllele": "T",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.2:c.1556T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:p.Ile519Asn",
        "hgvsWellDefined": "NP_852111.2:p.Ile519Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1834,
          "referenceAllele": "T",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.1:c.1736T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:p.Ile579Asn",
        "hgvsWellDefined": "XP_011531035.1:p.Ile579Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.1:c.1403T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:p.Ile468Asn",
        "hgvsWellDefined": "XP_011531036.1:p.Ile468Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "referenceAllele": "T",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532735.1:c.842T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531037.1:p.Ile281Asn",
        "hgvsWellDefined": "XP_011531037.1:p.Ile281Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1967,
          "referenceAllele": "T",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532736.1:c.842T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531038.1:p.Ile281Asn",
        "hgvsWellDefined": "XP_011531038.1:p.Ile281Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 5511,
          "referenceAllele": "T",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 5510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532737.1:c.956+5511T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531039.1:n.956+5511T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 5511,
          "referenceAllele": "T",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 5510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532738.1:c.956+5511T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531040.1:n.956+5511T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 5511,
          "referenceAllele": "T",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 5510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532739.1:c.956+5511T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531041.1:n.956+5511T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1834,
          "referenceAllele": "T",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532733.2:c.1736T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531035.1:p.Ile579Asn",
        "hgvsWellDefined": "XP_011531035.1:p.Ile579Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532734.2:c.1403T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531036.1:p.Ile468Asn",
        "hgvsWellDefined": "XP_011531036.1:p.Ile468Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1427,
          "referenceAllele": "T",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532735.2:c.842T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531037.1:p.Ile281Asn",
        "hgvsWellDefined": "XP_011531037.1:p.Ile281Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2501,
          "referenceAllele": "T",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "XM_011532736.2:c.842T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531038.1:p.Ile281Asn",
        "hgvsWellDefined": "XP_011531038.1:p.Ile281Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526485",
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "referenceAllele": "T",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_000145.4:c.1634T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000136.2:p.Ile545Asn",
        "hgvsWellDefined": "NP_000136.2:p.Ile545Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000406846.7:c.1634T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000145.4:c.1634T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384708.2:p.Ile545Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000136.2:p.Ile545Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1654,
          "referenceAllele": "T",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NM_181446.3:c.1556T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_852111.2:p.Ile519Asn",
        "hgvsWellDefined": "NP_852111.2:p.Ile519Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700944"
    }
  ],
  "type": "nucleotide"
}