{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6140922",
  "communityStandardTitle": [
    "NM_003977.4(AIP):c.733G>A (p.Glu245Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=810914[alleleid]",
        "alleleId": 810914,
        "preferredName": "NM_003977.4(AIP):c.733G>A (p.Glu245Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/826974",
        "RCV": [
          "RCV001026294",
          "RCV001231533",
          "RCV001105892"
        ],
        "variationId": 826974
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-67257874-G-A",
        "id": "11-67257874-G-A",
        "variant": "11:67257874 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67257874G>A?assembly=hg19",
        "id": "chr11:g.67257874G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.67490403G>A?assembly=hg38",
        "id": "chr11:g.67490403G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150645662",
        "rs": 150645662
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67257874-G-A?dataset=gnomad_r2_1",
        "id": "11-67257874-G-A",
        "variant": "11:67257874 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67490403-G-A?dataset=gnomad_r3",
        "id": "11-67490403-G-A",
        "variant": "11:67490403 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-67490403-G-A?dataset=gnomad_r4",
        "id": "11-67490403-G-A",
        "variant": "11:67490403 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 67490403,
          "referenceAllele": "G",
          "start": 67490402
        }
      ],
      "hgvs": [
        "NC_000011.10:g.67490403G>A",
        "CM000673.2:g.67490403G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 67257874,
          "referenceAllele": "G",
          "start": 67257873
        }
      ],
      "hgvs": [
        "NC_000011.9:g.67257874G>A",
        "CM000673.1:g.67257874G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 67014450,
          "referenceAllele": "G",
          "start": 67014449
        }
      ],
      "hgvs": [
        "NC_000011.8:g.67014450G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12370,
          "referenceAllele": "G",
          "start": 12369
        }
      ],
      "hgvs": [
        "NG_008969.1:g.12370G>A",
        "LRG_460:g.12370G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001340"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000525341.2:c.710G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000528641.7:c.544G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434982.3:p.Glu182Lys",
        "hgvsWellDefined": "ENSP00000434982.3:p.Glu182Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1245,
          "referenceAllele": "G",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000529797.2:n.1245G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 559,
          "endIntronDirection": "-",
          "endIntronOffset": 593,
          "referenceAllele": "G",
          "start": 559,
          "startIntronDirection": "-",
          "startIntronOffset": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682324.1:c.469-594G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508017.1:n.469-594G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682659.1:c.364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507351.1:p.Glu122Lys",
        "hgvsWellDefined": "ENSP00000507351.1:p.Glu122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "G",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000682699.1:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507935.1:p.Glu245Lys",
        "hgvsWellDefined": "ENSP00000507935.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000683237.1:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507343.1:p.Glu245Lys",
        "hgvsWellDefined": "ENSP00000507343.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000683856.1:c.556G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507979.1:p.Glu186Lys",
        "hgvsWellDefined": "ENSP00000507979.1:p.Glu186Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000684006.1:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507269.1:p.Glu245Lys",
        "hgvsWellDefined": "ENSP00000507269.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000684657.1:c.553G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507961.1:p.Glu185Lys",
        "hgvsWellDefined": "ENSP00000507961.1:p.Glu185Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000279146.8:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000279146.3:p.Glu245Lys",
        "hgvsWellDefined": "ENSP00000279146.3:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000279146.8:c.733G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003977.4:c.733G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000279146.3:p.Glu245Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003968.3:p.Glu245Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000279146.7:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000279146.3:p.Glu245Lys",
        "hgvsWellDefined": "ENSP00000279146.3:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000525341.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476993.1:p.Glu129Lys",
        "hgvsWellDefined": "ENSP00000476993.1:p.Glu129Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "ENST00000528641.6:c.544G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434982.2:p.Glu182Lys",
        "hgvsWellDefined": "ENSP00000434982.2:p.Glu182Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826875494",
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302959.1:c.556G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289888.1:p.Glu186Lys",
        "hgvsWellDefined": "NP_001289888.1:p.Glu186Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826876224",
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302960.1:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289889.1:p.Glu245Lys",
        "hgvsWellDefined": "NP_001289889.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915998209",
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_003977.3:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003968.3:p.Glu245Lys",
        "hgvsWellDefined": "NP_003968.3:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1182,
          "referenceAllele": "G",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "XM_024448761.1:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304529.1:p.Glu245Lys",
        "hgvsWellDefined": "XP_024304529.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915998209",
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_003977.4:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003968.3:p.Glu245Lys",
        "hgvsWellDefined": "NP_003968.3:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666271",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000279146.8:c.733G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003977.4:c.733G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000279146.3:p.Glu245Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003968.3:p.Glu245Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826876224",
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302960.2:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289889.1:p.Glu245Lys",
        "hgvsWellDefined": "NP_001289889.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826875494",
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302959.2:c.556G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289888.1:p.Glu186Lys",
        "hgvsWellDefined": "NP_001289888.1:p.Glu186Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717004"
    }
  ],
  "type": "nucleotide"
}