{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2586287971",
  "communityStandardTitle": [
    "NM_000146.4(FTL):c.-178T>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886037623",
        "rs": 886037623
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-48965330-T-C?dataset=gnomad_r4",
        "id": "19-48965330-T-C",
        "variant": "19:48965330 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 48965330,
          "referenceAllele": "T",
          "start": 48965329
        }
      ],
      "hgvs": [
        "NC_000019.10:g.48965330T>C",
        "CM000681.2:g.48965330T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 49468587,
          "referenceAllele": "T",
          "start": 49468586
        }
      ],
      "hgvs": [
        "NC_000019.9:g.49468587T>C",
        "CM000681.1:g.49468587T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 54160399,
          "referenceAllele": "T",
          "start": 54160398
        }
      ],
      "hgvs": [
        "NC_000019.8:g.54160399T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5022,
          "referenceAllele": "T",
          "start": 5021
        }
      ],
      "hgvs": [
        "NG_008152.1:g.5022T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000898"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22,
          "referenceAllele": "T",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "ENST00000331825.11:c.-178T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366525.2:n.-178T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747194",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331825.11:c.-178T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000146.4:c.-178T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366525.2:n.-178T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000137.2:n.-178T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30,
          "referenceAllele": "T",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "ENST00000331825.10:c.-178T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366525.2:n.-178T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22,
          "referenceAllele": "T",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "ENST00000622577.2:c.-178T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484043.1:n.-178T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405799"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22,
          "referenceAllele": "T",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "NM_000146.3:c.-178T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000137.2:n.-178T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "referenceAllele": "T",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "XM_024451447.1:c.333T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307215.1:p.Gly111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22,
          "referenceAllele": "T",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "NM_000146.4:c.-178T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000137.2:n.-178T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662327",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331825.11:c.-178T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000146.4:c.-178T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366525.2:n.-178T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000137.2:n.-178T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}