{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127904",
  "communityStandardTitle": [
    "NM_000477.7(ALB):c.1186A>G (p.Lys396Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33237[alleleid]",
        "alleleId": 33237,
        "preferredName": "NM_000477.7(ALB):c.1186A>G (p.Lys396Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18198",
        "RCV": [
          "RCV000019844"
        ],
        "variationId": 18198
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.74280879A>G?assembly=hg19",
        "id": "chr4:g.74280879A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.73415162A>G?assembly=hg38",
        "id": "chr4:g.73415162A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/78166690",
        "rs": 78166690
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-73415162-A-G?dataset=gnomad_r3",
        "id": "4-73415162-A-G",
        "variant": "4:73415162 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-73415162-A-G?dataset=gnomad_r4",
        "id": "4-73415162-A-G",
        "variant": "4:73415162 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 73415162,
          "referenceAllele": "A",
          "start": 73415161
        }
      ],
      "hgvs": [
        "NC_000004.12:g.73415162A>G",
        "CM000666.2:g.73415162A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 74280879,
          "referenceAllele": "A",
          "start": 74280878
        }
      ],
      "hgvs": [
        "NC_000004.11:g.74280879A>G",
        "CM000666.1:g.74280879A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 74499743,
          "referenceAllele": "A",
          "start": 74499742
        }
      ],
      "hgvs": [
        "NC_000004.10:g.74499743A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15908,
          "referenceAllele": "A",
          "start": 15907
        }
      ],
      "hgvs": [
        "NG_009291.1:g.15908A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001547"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1227,
          "referenceAllele": "A",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.9:c.1186A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Lys396Glu",
        "hgvsWellDefined": "ENSP00000295897.4:p.Lys396Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.1186A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.1186A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Lys396Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Lys396Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1275,
          "referenceAllele": "A",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.8:c.1186A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Lys396Glu",
        "hgvsWellDefined": "ENSP00000295897.4:p.Lys396Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "referenceAllele": "A",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000401494.7:c.841A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384695.3:p.Lys281Glu",
        "hgvsWellDefined": "ENSP00000384695.3:p.Lys281Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "A",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000415165.6:c.610A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401820.2:p.Lys204Glu",
        "hgvsWellDefined": "ENSP00000401820.2:p.Lys204Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "A",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000476441.6:c.*465A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423727.1:n.*465A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000484992.1:n.506A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 943,
          "referenceAllele": "A",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000503124.5:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421027.1:p.Lys246Glu",
        "hgvsWellDefined": "ENSP00000421027.1:p.Lys246Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "A",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000504043.1:n.189A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 872,
          "referenceAllele": "A",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000505649.5:n.872A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1210,
          "referenceAllele": "A",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000509063.5:c.1186A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422784.1:p.Lys396Glu",
        "hgvsWellDefined": "ENSP00000422784.1:p.Lys396Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 719,
          "referenceAllele": "A",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000511370.1:c.719A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341652"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 588,
          "referenceAllele": "A",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621085.4:c.547A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483421.1:p.Lys183Glu",
        "hgvsWellDefined": "ENSP00000483421.1:p.Lys183Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "referenceAllele": "A",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621628.4:c.547A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480485.1:p.Lys183Glu",
        "hgvsWellDefined": "ENSP00000480485.1:p.Lys183Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127905",
      "coordinates": [
        {
          "allele": "G",
          "end": 1259,
          "referenceAllele": "A",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.5:c.1186A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Lys396Glu",
        "hgvsWellDefined": "NP_000468.1:p.Lys396Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127905",
      "coordinates": [
        {
          "allele": "G",
          "end": 1275,
          "referenceAllele": "A",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.6:c.1186A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Lys396Glu",
        "hgvsWellDefined": "NP_000468.1:p.Lys396Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127905",
      "coordinates": [
        {
          "allele": "G",
          "end": 1227,
          "referenceAllele": "A",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.7:c.1186A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Lys396Glu",
        "hgvsWellDefined": "NP_000468.1:p.Lys396Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.1186A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.1186A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Lys396Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Lys396Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}