{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114819",
  "communityStandardTitle": [
    "NM_000505.4(F12):c.983C>G (p.Thr328Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16209[alleleid]",
        "alleleId": 16209,
        "preferredName": "NM_000505.4(F12):c.983C>G (p.Thr328Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1170",
        "RCV": [
          "RCV000001229",
          "RCV000414902",
          "RCV001198361"
        ],
        "variationId": 1170
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176831232G>C?assembly=hg19",
        "id": "chr5:g.176831232G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177404231G>C?assembly=hg38",
        "id": "chr5:g.177404231G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204456",
        "rs": 118204456
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 177404231,
          "referenceAllele": "G",
          "start": 177404230
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177404231G>C",
        "CM000667.2:g.177404231G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 176831232,
          "referenceAllele": "G",
          "start": 176831231
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176831232G>C",
        "CM000667.1:g.176831232G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 176763838,
          "referenceAllele": "G",
          "start": 176763837
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176763838G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10346,
          "referenceAllele": "C",
          "start": 10345
        }
      ],
      "hgvs": [
        "NG_007568.1:g.10346C>G",
        "LRG_145:g.10346C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000654"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1276,
          "referenceAllele": "C",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "ENST00000696192.1:c.*649C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512476.1:n.*649C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907666"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "ENST00000696193.1:c.*1353C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512477.1:n.*1353C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "ENST00000696194.1:c.*573C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512478.1:n.*573C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3786,
          "referenceAllele": "C",
          "start": 3785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "ENST00000696195.1:n.3786C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "C",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "ENST00000696200.1:n.1086C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "ENST00000696201.1:c.983C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512482.1:p.Thr328Arg",
        "hgvsWellDefined": "ENSP00000512482.1:p.Thr328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "ENST00000253496.4:c.983C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253496.3:p.Thr328Arg",
        "hgvsWellDefined": "ENSP00000253496.3:p.Thr328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253496.4:c.983C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000505.4:c.983C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253496.3:p.Thr328Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000496.2:p.Thr328Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "ENST00000253496.3:c.983C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253496.3:p.Thr328Arg",
        "hgvsWellDefined": "ENSP00000253496.3:p.Thr328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 705,
          "referenceAllele": "G",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004545",
      "geneNCBI_id": 2870,
      "geneSymbol": "GRK6",
      "hgvs": [
        "ENST00000502598.5:c.-45+705G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422873.1:n.-45+705G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "C",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "ENST00000502854.5:n.242C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "ENST00000503736.1:n.355C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "C",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "ENST00000510358.5:n.242C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097293",
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "NM_000505.3:c.983C>G",
        "LRG_145t1:c.983C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000496.2:p.Thr328Arg",
        "hgvsWellDefined": "NP_000496.2:p.Thr328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "XM_011534461.1:c.983C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532763.1:p.Thr328Arg",
        "hgvsWellDefined": "XP_011532763.1:p.Thr328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "XM_011534462.1:c.647C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532764.1:p.Thr216Arg",
        "hgvsWellDefined": "XP_011532764.1:p.Thr216Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "XM_011534462.2:c.647C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532764.1:p.Thr216Arg",
        "hgvsWellDefined": "XP_011532764.1:p.Thr216Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1517,
          "endIntronDirection": "+",
          "endIntronOffset": 7157,
          "referenceAllele": "G",
          "start": 1517,
          "startIntronDirection": "+",
          "startIntronOffset": 7156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011019",
      "geneNCBI_id": 6569,
      "geneSymbol": "SLC34A1",
      "hgvs": [
        "XM_017009773.2:c.1416+7157G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865262.1:n.1416+7157G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563992"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097293",
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003530",
      "geneNCBI_id": 2161,
      "geneSymbol": "F12",
      "hgvs": [
        "NM_000505.4:c.983C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000496.2:p.Thr328Arg",
        "hgvsWellDefined": "NP_000496.2:p.Thr328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253496.4:c.983C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000505.4:c.983C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253496.3:p.Thr328Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000496.2:p.Thr328Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}