{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402156746",
  "communityStandardTitle": [
    "NM_000371.4(TTR):c.148G>T (p.Val50Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1868299[alleleid]",
        "alleleId": 1868299,
        "preferredName": "NM_000371.4(TTR):c.148G>T (p.Val50Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2138144",
        "RCV": [
          "RCV003050501"
        ],
        "variationId": 2138144
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.29172937G>T?assembly=hg19",
        "id": "chr18:g.29172937G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31592974G>T?assembly=hg38",
        "id": "chr18:g.31592974G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28933979",
        "rs": 28933979
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 31592974,
          "referenceAllele": "G",
          "start": 31592973
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31592974G>T",
        "CM000680.2:g.31592974G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 29172937,
          "referenceAllele": "G",
          "start": 29172936
        }
      ],
      "hgvs": [
        "NC_000018.9:g.29172937G>T",
        "CM000680.1:g.29172937G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 27426935,
          "referenceAllele": "G",
          "start": 27426934
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27426935G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6208,
          "referenceAllele": "G",
          "start": 6207
        }
      ],
      "hgvs": [
        "NG_009490.1:g.6208G>T",
        "LRG_416:g.6208G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001600"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000237014.8:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237014.4:p.Val50Leu",
        "hgvsWellDefined": "ENSP00000237014.4:p.Val50Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740991",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237014.8:c.148G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000371.4:c.148G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237014.4:p.Val50Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000362.1:p.Val50Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000610404.5:c.52G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477599.2:p.Val18Leu",
        "hgvsWellDefined": "ENSP00000477599.2:p.Val18Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000649620.1:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497927.1:p.Val50Leu",
        "hgvsWellDefined": "ENSP00000497927.1:p.Val50Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "G",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000237014.7:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000237014.3:p.Val50Leu",
        "hgvsWellDefined": "ENSP00000237014.3:p.Val50Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000432547.7:n.174G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000541025.2:n.174G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000610404.4:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477599.1:p.Val50Leu",
        "hgvsWellDefined": "ENSP00000477599.1:p.Val50Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "ENST00000613781.1:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479174.1:p.Val50Leu",
        "hgvsWellDefined": "ENSP00000479174.1:p.Val50Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100258",
      "coordinates": [
        {
          "allele": "T",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "NM_000371.3:c.148G>T",
        "LRG_416t1:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000362.1:p.Val50Leu",
        "hgvsWellDefined": "NP_000362.1:p.Val50Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100258",
      "coordinates": [
        {
          "allele": "T",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012405",
      "geneNCBI_id": 7276,
      "geneSymbol": "TTR",
      "hgvs": [
        "NM_000371.4:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000362.1:p.Val50Leu",
        "hgvsWellDefined": "NP_000362.1:p.Val50Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237014.8:c.148G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000371.4:c.148G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237014.4:p.Val50Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000362.1:p.Val50Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}