{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392930767",
  "communityStandardTitle": [
    "NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1286848[alleleid]",
        "alleleId": 1286848,
        "preferredName": "NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1297058",
        "RCV": [
          "RCV001724794"
        ],
        "variationId": 1297058
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.66729175G>C?assembly=hg19",
        "id": "chr15:g.66729175G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.66436837G>C?assembly=hg38",
        "id": "chr15:g.66436837G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908596",
        "rs": 121908596
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 66436837,
          "referenceAllele": "G",
          "start": 66436836
        }
      ],
      "hgvs": [
        "NC_000015.10:g.66436837G>C",
        "CM000677.2:g.66436837G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 66729175,
          "referenceAllele": "G",
          "start": 66729174
        }
      ],
      "hgvs": [
        "NC_000015.9:g.66729175G>C",
        "CM000677.1:g.66729175G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 64516229,
          "referenceAllele": "G",
          "start": 64516228
        }
      ],
      "hgvs": [
        "NC_000015.8:g.64516229G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54965,
          "referenceAllele": "G",
          "start": 54964
        }
      ],
      "hgvs": [
        "NG_008305.1:g.54965G>C",
        "LRG_725:g.54965G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001015"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000684779.1:c.317G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508681.1:p.Gly106Ala",
        "hgvsWellDefined": "ENSP00000508681.1:p.Gly106Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000685172.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509604.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000509604.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 1600,
          "referenceAllele": "G",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000685763.1:c.291+1600G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509016.1:n.291+1600G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000686347.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509027.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000509027.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000687191.1:n.819G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000689951.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509308.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000509308.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691077.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509843.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000509843.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691576.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510066.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000510066.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691937.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508768.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000508768.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000692487.1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509534.1:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000509534.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000692683.1:c.317G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508437.1:p.Gly106Ala",
        "hgvsWellDefined": "ENSP00000508437.1:p.Gly106Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000693150.1:c.317G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510309.1:p.Gly106Ala",
        "hgvsWellDefined": "ENSP00000510309.1:p.Gly106Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000307102.10:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302486.5:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000302486.5:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307102.10:c.383G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002755.4:c.383G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302486.5:p.Gly128Ala"
          },
          "RefSeq": {
            "hgvs": "NP_002746.1:p.Gly128Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 914,
          "referenceAllele": "G",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000307102.9:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302486.4:p.Gly128Ala",
        "hgvsWellDefined": "ENSP00000302486.4:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "referenceAllele": "G",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000425818.2:n.894G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS288931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499262409",
      "coordinates": [
        {
          "allele": "C",
          "end": 858,
          "referenceAllele": "G",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "NM_002755.3:c.383G>C",
        "LRG_725t1:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002746.1:p.Gly128Ala",
        "hgvsWellDefined": "NP_002746.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_011521783.1:c.317G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520085.1:p.Gly106Ala",
        "hgvsWellDefined": "XP_011520085.1:p.Gly106Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_011521783.3:c.317G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520085.1:p.Gly106Ala",
        "hgvsWellDefined": "XP_011520085.1:p.Gly106Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_017022411.2:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877900.1:p.Gly128Ala",
        "hgvsWellDefined": "XP_016877900.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_017022412.1:c.317G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877901.1:p.Gly106Ala",
        "hgvsWellDefined": "XP_016877901.1:p.Gly106Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499262409",
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "NM_002755.4:c.383G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002746.1:p.Gly128Ala",
        "hgvsWellDefined": "NP_002746.1:p.Gly128Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307102.10:c.383G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002755.4:c.383G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302486.5:p.Gly128Ala"
          },
          "RefSeq": {
            "hgvs": "NP_002746.1:p.Gly128Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}