{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10612922",
  "communityStandardTitle": [
    "NM_000030.3(AGXT):c.930C>T (p.Phe310=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5791394",
        "active": true,
        "id": "COSM5791394"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=285582[alleleid]",
        "alleleId": 285582,
        "preferredName": "NM_000030.3(AGXT):c.930C>T (p.Phe310=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/335299",
        "RCV": [
          "RCV000294212",
          "RCV001414441"
        ],
        "variationId": 335299
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241817037C>T?assembly=hg19",
        "id": "chr2:g.241817037C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240877620C>T?assembly=hg38",
        "id": "chr2:g.240877620C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886055842",
        "rs": 886055842
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-241817037-C-T?dataset=gnomad_r2_1",
        "id": "2-241817037-C-T",
        "variant": "2:241817037 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240877620-C-T?dataset=gnomad_r3",
        "id": "2-240877620-C-T",
        "variant": "2:240877620 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240877620-C-T?dataset=gnomad_r4",
        "id": "2-240877620-C-T",
        "variant": "2:240877620 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 240877620,
          "referenceAllele": "C",
          "start": 240877619
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240877620C>T",
        "CM000664.2:g.240877620C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 241817037,
          "referenceAllele": "C",
          "start": 241817036
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241817037C>T",
        "CM000664.1:g.241817037C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 241465710,
          "referenceAllele": "C",
          "start": 241465709
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241465710C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13876,
          "referenceAllele": "C",
          "start": 13875
        }
      ],
      "hgvs": [
        "NG_008005.1:g.13876C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000769"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 972,
          "referenceAllele": "C",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.4:c.930C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Phe310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.930C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.930C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Phe310="
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Phe310="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.3:c.930C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Phe310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000470255.1:n.708C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825007711",
      "coordinates": [
        {
          "allele": "T",
          "end": 1051,
          "referenceAllele": "C",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.2:c.930C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Phe310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825007711",
      "coordinates": [
        {
          "allele": "T",
          "end": 972,
          "referenceAllele": "C",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.3:c.930C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Phe310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.930C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.930C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Phe310="
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Phe310="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}