{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3420014",
  "communityStandardTitle": [
    "NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=892906[alleleid]",
        "alleleId": 892906,
        "preferredName": "NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/907740",
        "RCV": [
          "RCV001157795"
        ],
        "variationId": 907740
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-135382118-G-T",
        "id": "5-135382118-G-T",
        "variant": "5:135382118 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.135382118G>T?assembly=hg19",
        "id": "chr5:g.135382118G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.136046429G>T?assembly=hg38",
        "id": "chr5:g.136046429G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199604416",
        "rs": 199604416
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-135382118-G-T?dataset=gnomad_r2_1",
        "id": "5-135382118-G-T",
        "variant": "5:135382118 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-136046429-G-T?dataset=gnomad_r4",
        "id": "5-136046429-G-T",
        "variant": "5:136046429 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 136046429,
          "referenceAllele": "G",
          "start": 136046428
        }
      ],
      "hgvs": [
        "NC_000005.10:g.136046429G>T",
        "CM000667.2:g.136046429G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 135382118,
          "referenceAllele": "G",
          "start": 135382117
        }
      ],
      "hgvs": [
        "NC_000005.9:g.135382118G>T",
        "CM000667.1:g.135382118G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 135410017,
          "referenceAllele": "G",
          "start": 135410016
        }
      ],
      "hgvs": [
        "NC_000005.8:g.135410017G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22535,
          "referenceAllele": "G",
          "start": 22534
        }
      ],
      "hgvs": [
        "NG_012646.1:g.22535G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000442011.7:c.393G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416330.2:p.Glu131Asp",
        "hgvsWellDefined": "ENSP00000416330.2:p.Glu131Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442011.7:c.393G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000358.3:c.393G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416330.2:p.Glu131Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000349.1:p.Glu131Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000442011.6:c.393G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416330.2:p.Glu131Asp",
        "hgvsWellDefined": "ENSP00000416330.2:p.Glu131Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000504185.5:n.550G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000506699.5:n.458G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 310,
          "referenceAllele": "G",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000507018.5:c.310G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "ENST00000515433.1:n.685G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344665"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139685294",
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "NM_000358.2:c.393G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000349.1:p.Glu131Asp",
        "hgvsWellDefined": "NP_000349.1:p.Glu131Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139685294",
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "NM_000358.3:c.393G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000349.1:p.Glu131Asp",
        "hgvsWellDefined": "NP_000349.1:p.Glu131Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662414",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442011.7:c.393G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000358.3:c.393G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416330.2:p.Glu131Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000349.1:p.Glu131Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}