{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA302192",
  "communityStandardTitle": [
    "NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188679[alleleid]",
        "alleleId": 188679,
        "preferredName": "NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190880",
        "RCV": [
          "RCV000171060",
          "RCV001350746",
          "RCV002426813",
          "RCV002485076"
        ],
        "variationId": 190880
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.35523473A>G?assembly=hg19",
        "id": "chr19:g.35523473A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.35032569A>G?assembly=hg38",
        "id": "chr19:g.35032569A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205838",
        "rs": 786205838
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-35523473-A-G?dataset=gnomad_r2_1",
        "id": "19-35523473-A-G",
        "variant": "19:35523473 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-35032569-A-G?dataset=gnomad_r3",
        "id": "19-35032569-A-G",
        "variant": "19:35032569 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-35032569-A-G?dataset=gnomad_r4",
        "id": "19-35032569-A-G",
        "variant": "19:35032569 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 35032569,
          "referenceAllele": "A",
          "start": 35032568
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35032569A>G",
        "CM000681.2:g.35032569A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 35523473,
          "referenceAllele": "A",
          "start": 35523472
        }
      ],
      "hgvs": [
        "NC_000019.9:g.35523473A>G",
        "CM000681.1:g.35523473A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 40215313,
          "referenceAllele": "A",
          "start": 40215312
        }
      ],
      "hgvs": [
        "NC_000019.8:g.40215313A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6882,
          "referenceAllele": "A",
          "start": 6881
        }
      ],
      "hgvs": [
        "NG_013359.1:g.6882A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002811"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "A",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000415950.5:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396915.2:p.Thr28Ala",
        "hgvsWellDefined": "ENSP00000396915.2:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "A",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000262631.11:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262631.3:p.Thr28Ala",
        "hgvsWellDefined": "ENSP00000262631.3:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262631.11:c.82A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001037.5:c.82A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262631.3:p.Thr28Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001028.1:p.Thr28Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 190,
          "referenceAllele": "A",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000415950.4:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396915.2:p.Thr28Ala",
        "hgvsWellDefined": "ENSP00000396915.2:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 470,
          "referenceAllele": "A",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000596348.2:c.-18A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492247.1:n.-18A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "A",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000638536.1:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492022.1:p.Thr28Ala",
        "hgvsWellDefined": "ENSP00000492022.1:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000640135.1:c.-18A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492655.1:n.-18A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000675741.1:c.-18A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502395.1:n.-18A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000676410.1:c.-18A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502717.1:n.-18A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "referenceAllele": "A",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000262631.9:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262631.3:p.Thr28Ala",
        "hgvsWellDefined": "ENSP00000262631.3:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82,
          "referenceAllele": "A",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000415950.3:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396915.2:p.Thr28Ala",
        "hgvsWellDefined": "ENSP00000396915.2:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "referenceAllele": "A",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000595652.5:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468848.1:p.Thr28Ala",
        "hgvsWellDefined": "ENSP00000468848.1:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 91,
          "referenceAllele": "A",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "ENST00000596348.1:n.91A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA302193",
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "referenceAllele": "A",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001037.4:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028.1:p.Thr28Ala",
        "hgvsWellDefined": "NP_001028.1:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916061725",
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "referenceAllele": "A",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_199037.3:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_950238.1:p.Thr28Ala",
        "hgvsWellDefined": "NP_950238.1:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 91,
          "referenceAllele": "A",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "XM_005259144.1:c.-18A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259201.1:n.-18A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 455,
          "referenceAllele": "A",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001321605.1:c.-18A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308534.1:n.-18A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514388"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916061725",
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "referenceAllele": "A",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_199037.4:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_950238.1:p.Thr28Ala",
        "hgvsWellDefined": "NP_950238.1:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526989"
    },
    {
      "@id": "http://reg.genome.network/allele/PA302193",
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "A",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001037.5:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001028.1:p.Thr28Ala",
        "hgvsWellDefined": "NP_001028.1:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663081",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262631.11:c.82A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001037.5:c.82A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262631.3:p.Thr28Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001028.1:p.Thr28Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_001321605.2:c.-18A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308534.1:n.-18A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916061725",
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "A",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010586",
      "geneNCBI_id": 6324,
      "geneSymbol": "SCN1B",
      "hgvs": [
        "NM_199037.5:c.82A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_950238.1:p.Thr28Ala",
        "hgvsWellDefined": "NP_950238.1:p.Thr28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701444"
    }
  ],
  "type": "nucleotide"
}