{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602363",
  "communityStandardTitle": [
    "NM_002524.5(NRAS):c.38G>T (p.Gly13Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=574",
        "active": true,
        "id": "COSM574"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362755[alleleid]",
        "alleleId": 362755,
        "preferredName": "NM_002524.5(NRAS):c.38G>T (p.Gly13Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375876",
        "RCV": [
          "RCV000417850",
          "RCV000423218",
          "RCV000425977",
          "RCV000432522",
          "RCV000430805",
          "RCV000435607",
          "RCV000436237",
          "RCV000437557",
          "RCV000445025",
          "RCV004022195",
          "RCV000424444",
          "RCV000444067"
        ],
        "variationId": 375876
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.115258744C>A?assembly=hg19",
        "id": "chr1:g.115258744C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.114716123C>A?assembly=hg38",
        "id": "chr1:g.114716123C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434596",
        "rs": 121434596
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115258744-C-A?dataset=gnomad_r2_1",
        "id": "1-115258744-C-A",
        "variant": "1:115258744 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-114716123-C-A?dataset=gnomad_r4",
        "id": "1-114716123-C-A",
        "variant": "1:114716123 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 114716123,
          "referenceAllele": "C",
          "start": 114716122
        }
      ],
      "hgvs": [
        "NC_000001.11:g.114716123C>A",
        "CM000663.2:g.114716123C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 115258744,
          "referenceAllele": "C",
          "start": 115258743
        }
      ],
      "hgvs": [
        "NC_000001.10:g.115258744C>A",
        "CM000663.1:g.115258744C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 115060267,
          "referenceAllele": "C",
          "start": 115060266
        }
      ],
      "hgvs": [
        "NC_000001.9:g.115060267C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5772,
          "referenceAllele": "G",
          "start": 5771
        }
      ],
      "hgvs": [
        "NG_007572.1:g.5772G>T",
        "LRG_92:g.5772G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "referenceAllele": "G",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007989",
      "geneNCBI_id": 4893,
      "geneSymbol": "NRAS",
      "hgvs": [
        "ENST00000369535.5:c.38G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358548.4:p.Gly13Val",
        "hgvsWellDefined": "ENSP00000358548.4:p.Gly13Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369535.5:c.38G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002524.5:c.38G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358548.4:p.Gly13Val"
          },
          "RefSeq": {
            "hgvs": "NP_002515.1:p.Gly13Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "referenceAllele": "G",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007989",
      "geneNCBI_id": 4893,
      "geneSymbol": "NRAS",
      "hgvs": [
        "ENST00000369535.4:c.38G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358548.4:p.Gly13Val",
        "hgvsWellDefined": "ENSP00000358548.4:p.Gly13Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485934",
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "referenceAllele": "G",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007989",
      "geneNCBI_id": 4893,
      "geneSymbol": "NRAS",
      "hgvs": [
        "NM_002524.4:c.38G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002515.1:p.Gly13Val",
        "hgvsWellDefined": "NP_002515.1:p.Gly13Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027826"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485934",
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "referenceAllele": "G",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007989",
      "geneNCBI_id": 4893,
      "geneSymbol": "NRAS",
      "hgvs": [
        "NM_002524.5:c.38G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002515.1:p.Gly13Val",
        "hgvsWellDefined": "NP_002515.1:p.Gly13Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369535.5:c.38G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002524.5:c.38G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358548.4:p.Gly13Val"
          },
          "RefSeq": {
            "hgvs": "NP_002515.1:p.Gly13Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}