{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA006214",
  "communityStandardTitle": [
    "NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32248[alleleid]",
        "alleleId": 32248,
        "preferredName": "NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17209",
        "RCV": [
          "RCV000018749"
        ],
        "variationId": 17209
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189871691G>T?assembly=hg19",
        "id": "chr2:g.189871691G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189006965G>T?assembly=hg38",
        "id": "chr2:g.189006965G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912915",
        "rs": 121912915
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 189006965,
          "referenceAllele": "G",
          "start": 189006964
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189006965G>T",
        "CM000664.2:g.189006965G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 189871691,
          "referenceAllele": "G",
          "start": 189871690
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189871691G>T",
        "CM000664.1:g.189871691G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 189579936,
          "referenceAllele": "G",
          "start": 189579935
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189579936G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37593,
          "referenceAllele": "G",
          "start": 37592
        }
      ],
      "hgvs": [
        "NG_007404.1:g.37593G>T",
        "LRG_3:g.37593G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3248,
          "referenceAllele": "G",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000450867.2:c.3131G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415346.2:p.Gly1044Val",
        "hgvsWellDefined": "ENSP00000415346.2:p.Gly1044Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3347,
          "referenceAllele": "G",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.9:c.3230G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.4:p.Gly1077Val",
        "hgvsWellDefined": "ENSP00000304408.4:p.Gly1077Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.3230G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.3230G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly1077Val"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly1077Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3400,
          "referenceAllele": "G",
          "start": 3399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.7:c.3230G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.3:p.Gly1077Val",
        "hgvsWellDefined": "ENSP00000304408.3:p.Gly1077Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2631,
          "endIntronDirection": "-",
          "endIntronOffset": 1088,
          "referenceAllele": "G",
          "start": 2631,
          "startIntronDirection": "-",
          "startIntronOffset": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000317840.9:c.2528-1089G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315243.6:n.2528-1089G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281706",
      "coordinates": [
        {
          "allele": "T",
          "end": 3347,
          "referenceAllele": "G",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.3:c.3230G>T",
        "LRG_3t1:c.3230G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.1:p.Gly1077Val",
        "hgvsWellDefined": "NP_000081.1:p.Gly1077Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573060779",
      "coordinates": [
        {
          "allele": "T",
          "end": 3347,
          "referenceAllele": "G",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.4:c.3230G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.2:p.Gly1077Val",
        "hgvsWellDefined": "NP_000081.2:p.Gly1077Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.3230G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.3230G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Gly1077Val"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Gly1077Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}