{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1974200",
  "communityStandardTitle": [
    "NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=246905[alleleid]",
        "alleleId": 246905,
        "preferredName": "NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/252518",
        "RCV": [
          "RCV000238882",
          "RCV000911281",
          "RCV002518507"
        ],
        "variationId": 252518
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-175440082-C-T",
        "id": "2-175440082-C-T",
        "variant": "2:175440082 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.175440082C>T?assembly=hg19",
        "id": "chr2:g.175440082C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.174575354C>T?assembly=hg38",
        "id": "chr2:g.174575354C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138276021",
        "rs": 138276021
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-175440082-C-T?dataset=gnomad_r2_1",
        "id": "2-175440082-C-T",
        "variant": "2:175440082 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-174575354-C-T?dataset=gnomad_r3",
        "id": "2-174575354-C-T",
        "variant": "2:174575354 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-174575354-C-T?dataset=gnomad_r4",
        "id": "2-174575354-C-T",
        "variant": "2:174575354 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 174575354,
          "referenceAllele": "C",
          "start": 174575353
        }
      ],
      "hgvs": [
        "NC_000002.12:g.174575354C>T",
        "CM000664.2:g.174575354C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 175440082,
          "referenceAllele": "C",
          "start": 175440081
        }
      ],
      "hgvs": [
        "NC_000002.11:g.175440082C>T",
        "CM000664.1:g.175440082C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 175148328,
          "referenceAllele": "C",
          "start": 175148327
        }
      ],
      "hgvs": [
        "NC_000002.10:g.175148328C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112546,
          "referenceAllele": "G",
          "start": 112545
        }
      ],
      "hgvs": [
        "NG_032009.1:g.112546G>A",
        "LRG_374:g.112546G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005091"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000436221.2:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388454.2:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000388454.2:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "referenceAllele": "G",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000698666.1:n.213G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000698667.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513868.1:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000513868.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 293,
          "referenceAllele": "G",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000698668.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513869.1:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000513869.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000698701.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513882.1:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000513882.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000679041.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503603.1:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000503603.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000679041.1:c.208G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001375834.1:c.208G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503603.1:p.Gly70Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001362763.1:p.Gly70Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000272746.9:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272746.5:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000272746.5:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 356,
          "referenceAllele": "G",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000359761.7:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352802.3:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000352802.3:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000392546.6:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376329.2:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000376329.2:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "referenceAllele": "G",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000392547.6:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376330.2:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000376330.2:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000409415.7:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387150.3:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000387150.3:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 411,
          "referenceAllele": "G",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000409891.5:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386431.1:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000386431.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "referenceAllele": "G",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000410117.5:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386757.1:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000386757.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000436221.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388454.1:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000388454.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000455428.5:c.199G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391785.1:p.Gly67Ser",
        "hgvsWellDefined": "ENSP00000391785.1:p.Gly67Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 411,
          "referenceAllele": "G",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000610916.4:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479992.1:p.Gly70Ser",
        "hgvsWellDefined": "ENSP00000479992.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645490784",
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001077269.1:c.208G>A",
        "LRG_374t1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070737.1:p.Gly70Ser",
        "hgvsWellDefined": "NP_001070737.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987839",
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "referenceAllele": "G",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_003387.4:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003378.3:p.Gly70Ser",
        "hgvsWellDefined": "NP_003378.3:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 504,
          "referenceAllele": "G",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "XM_011511780.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510082.1:p.Gly70Ser",
        "hgvsWellDefined": "XP_011510082.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "XM_011511781.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510083.1:p.Gly70Ser",
        "hgvsWellDefined": "XP_011510083.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "XM_011511780.3:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510082.1:p.Gly70Ser",
        "hgvsWellDefined": "XP_011510082.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542289"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828631871",
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375832.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362761.1:p.Gly70Ser",
        "hgvsWellDefined": "NP_001362761.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632098",
      "coordinates": [
        {
          "allele": "A",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375833.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362762.1:p.Gly70Ser",
        "hgvsWellDefined": "NP_001362762.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632325",
      "coordinates": [
        {
          "allele": "A",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375834.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362763.1:p.Gly70Ser",
        "hgvsWellDefined": "NP_001362763.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693913",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000679041.1:c.208G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001375834.1:c.208G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503603.1:p.Gly70Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001362763.1:p.Gly70Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632551",
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375835.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362764.1:p.Gly70Ser",
        "hgvsWellDefined": "NP_001362764.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632779",
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375836.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362765.1:p.Gly70Ser",
        "hgvsWellDefined": "NP_001362765.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632959",
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375837.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362766.1:p.Gly70Ser",
        "hgvsWellDefined": "NP_001362766.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828633141",
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "referenceAllele": "G",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375838.1:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362767.1:p.Gly70Ser",
        "hgvsWellDefined": "NP_001362767.1:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "endIntronDirection": "-",
          "endIntronOffset": 3108,
          "referenceAllele": "G",
          "start": 307,
          "startIntronDirection": "-",
          "startIntronOffset": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375839.1:c.182-3109G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362768.1:n.182-3109G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987839",
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_003387.5:c.208G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003378.3:p.Gly70Ser",
        "hgvsWellDefined": "NP_003378.3:p.Gly70Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695810"
    }
  ],
  "type": "nucleotide"
}