{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1246156068",
  "communityStandardTitle": [
    "NM_005633.4(SOS1):c.335C= (p.Pro112=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397517166",
        "rs": 397517166
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 39058683,
          "referenceAllele": "G",
          "start": 39058682
        }
      ],
      "hgvs": [
        "NC_000002.12:g.39058683G=",
        "CM000664.2:g.39058683G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 39285824,
          "referenceAllele": "G",
          "start": 39285823
        }
      ],
      "hgvs": [
        "NC_000002.11:g.39285824G=",
        "CM000664.1:g.39285824G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 39139328,
          "referenceAllele": "G",
          "start": 39139327
        }
      ],
      "hgvs": [
        "NC_000002.10:g.39139328G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 66781,
          "referenceAllele": "C",
          "start": 66780
        }
      ],
      "hgvs": [
        "NG_007530.1:g.66781C=",
        "LRG_754:g.66781C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000638"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000461545.2:n.362C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000685782.1:n.1173C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "referenceAllele": "C",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000688189.1:n.100C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000689668.1:n.342C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690679.1:c.435C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690876.1:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508955.1:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832921"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000691229.1:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510437.1:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692089.1:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508626.1:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.8:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.335C="
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.335C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:p.Pro112="
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:p.Pro112="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "C",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000395038.6:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378479.2:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.6:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000426016.5:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387784.1:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000451331.1:c.164C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393899.1:p.Pro55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829609917",
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.3:c.335C=",
        "LRG_754t1:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.3:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "referenceAllele": "C",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533060.1:c.428C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531362.1:p.Pro143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "referenceAllele": "C",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533061.1:c.428C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531363.1:p.Pro143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 329,
          "referenceAllele": "C",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.1:c.314C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:p.Pro105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 665,
          "referenceAllele": "C",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533063.1:c.311C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531365.1:p.Pro104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "C",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.1:c.164C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:p.Pro55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "referenceAllele": "C",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533065.1:c.428C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531367.1:p.Pro143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.4:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.2:c.314C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:p.Pro105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "C",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.2:c.164C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:p.Pro55="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828893054",
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382394.1:c.314C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369323.1:p.Pro105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828894239",
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382395.1:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369324.1:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829609917",
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.4:c.335C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:p.Pro112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.335C="
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.335C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:p.Pro112="
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:p.Pro112="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}