{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA145460",
  "communityStandardTitle": [
    "NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1581454",
        "active": true,
        "id": "COSM1581454"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4243207",
        "active": true,
        "id": "COSM4243207"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94255[alleleid]",
        "alleleId": 94255,
        "preferredName": "NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/88675",
        "RCV": [
          "RCV000076908",
          "RCV000224521",
          "RCV001027610",
          "RCV003224135",
          "RCV004019089"
        ],
        "variationId": 88675
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.9787030G>A?assembly=hg19",
        "id": "chr1:g.9787030G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.9726972G>A?assembly=hg38",
        "id": "chr1:g.9726972G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397518423",
        "rs": 397518423
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-9787030-G-A?dataset=gnomad_r2_1",
        "id": "1-9787030-G-A",
        "variant": "1:9787030 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-9726972-G-A?dataset=gnomad_r4",
        "id": "1-9726972-G-A",
        "variant": "1:9726972 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 9726972,
          "referenceAllele": "G",
          "start": 9726971
        }
      ],
      "hgvs": [
        "NC_000001.11:g.9726972G>A",
        "CM000663.2:g.9726972G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 9787030,
          "referenceAllele": "G",
          "start": 9787029
        }
      ],
      "hgvs": [
        "NC_000001.10:g.9787030G>A",
        "CM000663.1:g.9787030G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 9709617,
          "referenceAllele": "G",
          "start": 9709616
        }
      ],
      "hgvs": [
        "NC_000001.9:g.9709617G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 80241,
          "referenceAllele": "G",
          "start": 80240
        }
      ],
      "hgvs": [
        "NG_023434.1:g.80241G>A",
        "LRG_191:g.80241G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003864"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3430,
          "referenceAllele": "G",
          "start": 3429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000481137.2:c.*2315G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513886.1:n.*2315G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3161,
          "referenceAllele": "G",
          "start": 3160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000698709.1:c.2965G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513887.1:p.Glu989Lys",
        "hgvsWellDefined": "ENSP00000513887.1:p.Glu989Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3250,
          "referenceAllele": "G",
          "start": 3249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000698710.1:c.3058G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513888.1:p.Glu1020Lys",
        "hgvsWellDefined": "ENSP00000513888.1:p.Glu1020Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3127,
          "referenceAllele": "G",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000698712.1:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513889.1:p.Glu1021Lys",
        "hgvsWellDefined": "ENSP00000513889.1:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3373,
          "referenceAllele": "G",
          "start": 3372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000698713.1:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513890.1:p.Glu1021Lys",
        "hgvsWellDefined": "ENSP00000513890.1:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3223,
          "referenceAllele": "G",
          "start": 3222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000698714.1:c.2917G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513891.1:p.Glu973Lys",
        "hgvsWellDefined": "ENSP00000513891.1:p.Glu973Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3347,
          "referenceAllele": "G",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000698715.1:c.3058G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513892.1:p.Glu1020Lys",
        "hgvsWellDefined": "ENSP00000513892.1:p.Glu1020Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3170,
          "referenceAllele": "G",
          "start": 3169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000698716.1:c.3049G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513893.1:p.Glu1017Lys",
        "hgvsWellDefined": "ENSP00000513893.1:p.Glu1017Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2222,
          "referenceAllele": "G",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000698719.1:n.2222G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3270,
          "referenceAllele": "G",
          "start": 3269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000377346.9:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366563.4:p.Glu1021Lys",
        "hgvsWellDefined": "ENSP00000366563.4:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751908",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377346.9:c.3061G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005026.5:c.3061G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366563.4:p.Glu1021Lys"
          },
          "RefSeq": {
            "hgvs": "NP_005017.3:p.Glu1021Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3248,
          "referenceAllele": "G",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000361110.6:c.3133G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354410.2:p.Glu1045Lys",
        "hgvsWellDefined": "ENSP00000354410.2:p.Glu1045Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3256,
          "referenceAllele": "G",
          "start": 3255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000377346.8:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366563.4:p.Glu1021Lys",
        "hgvsWellDefined": "ENSP00000366563.4:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3341,
          "referenceAllele": "G",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000536656.5:c.3133G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446444.2:p.Glu1045Lys",
        "hgvsWellDefined": "ENSP00000446444.2:p.Glu1045Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3248,
          "referenceAllele": "G",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000543390.2:c.3133G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443811.2:p.Glu1045Lys",
        "hgvsWellDefined": "ENSP00000443811.2:p.Glu1045Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3341,
          "referenceAllele": "G",
          "start": 3340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "ENST00000628140.2:c.3133G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486826.1:p.Glu1045Lys",
        "hgvsWellDefined": "ENSP00000486826.1:p.Glu1045Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099686",
      "coordinates": [
        {
          "allele": "A",
          "end": 3269,
          "referenceAllele": "G",
          "start": 3268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "NM_005026.3:c.3061G>A",
        "LRG_191t1:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005017.3:p.Glu1021Lys",
        "hgvsWellDefined": "NP_005017.3:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3267,
          "referenceAllele": "G",
          "start": 3266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_005263473.1:c.3058G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263530.1:p.Glu1020Lys",
        "hgvsWellDefined": "XP_005263530.1:p.Glu1020Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3312,
          "referenceAllele": "G",
          "start": 3311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_006710686.1:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710749.1:p.Glu1021Lys",
        "hgvsWellDefined": "XP_006710749.1:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3375,
          "referenceAllele": "G",
          "start": 3374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_006710687.1:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710750.1:p.Glu1021Lys",
        "hgvsWellDefined": "XP_006710750.1:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3269,
          "referenceAllele": "G",
          "start": 3268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_006710688.1:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710751.1:p.Glu1021Lys",
        "hgvsWellDefined": "XP_006710751.1:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3162,
          "referenceAllele": "G",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_006710689.1:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710752.1:p.Glu1021Lys",
        "hgvsWellDefined": "XP_006710752.1:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3183,
          "referenceAllele": "G",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_006710690.1:c.2974G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710753.1:p.Glu992Lys",
        "hgvsWellDefined": "XP_006710753.1:p.Glu992Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3182,
          "referenceAllele": "G",
          "start": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_011541581.1:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539883.1:p.Glu1021Lys",
        "hgvsWellDefined": "XP_011539883.1:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3126,
          "referenceAllele": "G",
          "start": 3125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_011541582.1:c.2917G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539884.1:p.Glu973Lys",
        "hgvsWellDefined": "XP_011539884.1:p.Glu973Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2482,
          "referenceAllele": "G",
          "start": 2481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_011541583.1:c.2413G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539885.1:p.Glu805Lys",
        "hgvsWellDefined": "XP_011539885.1:p.Glu805Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3146,
          "referenceAllele": "G",
          "start": 3145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XR_946667.1:n.3146G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827500778",
      "coordinates": [
        {
          "allele": "A",
          "end": 3372,
          "referenceAllele": "G",
          "start": 3371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "NM_001350234.1:c.3058G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337163.1:p.Glu1020Lys",
        "hgvsWellDefined": "NP_001337163.1:p.Glu1020Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916030346",
      "coordinates": [
        {
          "allele": "A",
          "end": 3111,
          "referenceAllele": "G",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "NM_001350235.1:c.2974G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337164.1:p.Glu992Lys",
        "hgvsWellDefined": "NP_001337164.1:p.Glu992Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099686",
      "coordinates": [
        {
          "allele": "A",
          "end": 3270,
          "referenceAllele": "G",
          "start": 3269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "NM_005026.4:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005017.3:p.Glu1021Lys",
        "hgvsWellDefined": "NP_005017.3:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3329,
          "referenceAllele": "G",
          "start": 3328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_006710687.2:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710750.1:p.Glu1021Lys",
        "hgvsWellDefined": "XP_006710750.1:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3183,
          "referenceAllele": "G",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_006710689.2:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710752.1:p.Glu1021Lys",
        "hgvsWellDefined": "XP_006710752.1:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3552,
          "referenceAllele": "G",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_017001476.1:c.3238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856965.1:p.Glu1080Lys",
        "hgvsWellDefined": "XP_016856965.1:p.Glu1080Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3489,
          "referenceAllele": "G",
          "start": 3488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_017001477.1:c.3238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856966.1:p.Glu1080Lys",
        "hgvsWellDefined": "XP_016856966.1:p.Glu1080Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3649,
          "referenceAllele": "G",
          "start": 3648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_017001478.1:c.3238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856967.1:p.Glu1080Lys",
        "hgvsWellDefined": "XP_016856967.1:p.Glu1080Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3518,
          "referenceAllele": "G",
          "start": 3517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_017001479.1:c.3238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856968.1:p.Glu1080Lys",
        "hgvsWellDefined": "XP_016856968.1:p.Glu1080Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3360,
          "referenceAllele": "G",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_017001480.1:c.3238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856969.1:p.Glu1080Lys",
        "hgvsWellDefined": "XP_016856969.1:p.Glu1080Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3433,
          "referenceAllele": "G",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_017001481.1:c.3238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856970.1:p.Glu1080Lys",
        "hgvsWellDefined": "XP_016856970.1:p.Glu1080Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3354,
          "referenceAllele": "G",
          "start": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_017001482.2:c.3238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856971.1:p.Glu1080Lys",
        "hgvsWellDefined": "XP_016856971.1:p.Glu1080Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3360,
          "referenceAllele": "G",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_017001483.2:c.3151G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856972.1:p.Glu1051Lys",
        "hgvsWellDefined": "XP_016856972.1:p.Glu1051Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3447,
          "referenceAllele": "G",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_024447661.1:c.3238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303429.1:p.Glu1080Lys",
        "hgvsWellDefined": "XP_024303429.1:p.Glu1080Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3267,
          "referenceAllele": "G",
          "start": 3266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_024447663.1:c.3058G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303431.1:p.Glu1020Lys",
        "hgvsWellDefined": "XP_024303431.1:p.Glu1020Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3183,
          "referenceAllele": "G",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XM_024447664.1:c.2974G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303432.1:p.Glu992Lys",
        "hgvsWellDefined": "XP_024303432.1:p.Glu992Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3146,
          "referenceAllele": "G",
          "start": 3145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "XR_002956806.1:n.3146G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827500778",
      "coordinates": [
        {
          "allele": "A",
          "end": 3373,
          "referenceAllele": "G",
          "start": 3372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "NM_001350234.2:c.3058G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337163.1:p.Glu1020Lys",
        "hgvsWellDefined": "NP_001337163.1:p.Glu1020Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099686",
      "coordinates": [
        {
          "allele": "A",
          "end": 3270,
          "referenceAllele": "G",
          "start": 3269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008977",
      "geneNCBI_id": 5293,
      "geneSymbol": "PIK3CD",
      "hgvs": [
        "NM_005026.5:c.3061G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005017.3:p.Glu1021Lys",
        "hgvsWellDefined": "NP_005017.3:p.Glu1021Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696307",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377346.9:c.3061G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005026.5:c.3061G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366563.4:p.Glu1021Lys"
          },
          "RefSeq": {
            "hgvs": "NP_005017.3:p.Glu1021Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}