{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA511084764", "communityStandardTitle": [ "NM_000516.7(GNAS):c.393C>A (p.Ile131=)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.57478807C>A?assembly=hg19", "id": "chr20:g.57478807C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/7121", "rs": 7121 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 58903752, "referenceAllele": "C", "start": 58903751 } ], "hgvs": [ "NC_000020.11:g.58903752C>A", "CM000682.2:g.58903752C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 57478807, "referenceAllele": "C", "start": 57478806 } ], "hgvs": [ "NC_000020.10:g.57478807C>A", "CM000682.1:g.57478807C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 56912202, "referenceAllele": "C", "start": 56912201 } ], "hgvs": [ "NC_000020.9:g.56912202C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "A", "end": 69013, "referenceAllele": "C", "start": 69012 } ], "hgvs": [ "NG_016194.1:g.69013C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003000" }, { "coordinates": [ { "allele": "A", "end": 69013, "referenceAllele": "C", "start": 69012 } ], "hgvs": [ "NG_016194.2:g.69013C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673658" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000349036.9:c.2277C>A" ], "proteinEffect": { "hgvs": "ENSP00000265621.6:p.Ile759=" }, "referenceSequence": "http://reg.genome.network/refseq/RS824056" }, { "coordinates": [ { "allele": "A", "end": 1348, "referenceAllele": "C", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000419558.7:c.*251C>A" ], "proteinEffect": { "hgvs": "ENSP00000416234.2:n.*251C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS824682" }, { "coordinates": [ { "allele": "A", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000453292.7:c.992C>A" ], "proteinEffect": { "hgvs": "ENSP00000392000.2:n.992C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS825041" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "C", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000462499.6:c.174C>A" ], "proteinEffect": { "hgvs": "ENSP00000499758.2:p.Ile58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825125" }, { "coordinates": [ { "allele": "A", "end": 2416, "referenceAllele": "C", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000464624.7:c.*235C>A" ], "proteinEffect": { "hgvs": "ENSP00000499607.2:n.*235C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS825149" }, { "coordinates": [ { "allele": "A", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000464788.6:c.216C>A" ], "proteinEffect": { "hgvs": "ENSP00000499239.2:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825150" }, { "coordinates": [ { "allele": "A", "end": 334, "referenceAllele": "C", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000467227.6:c.174C>A" ], "proteinEffect": { "hgvs": "ENSP00000499681.2:p.Ile58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825176" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000467321.6:c.216C>A" ], "proteinEffect": { "hgvs": "ENSP00000499523.2:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825178" }, { "coordinates": [ { "allele": "A", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000468895.6:c.393C>A" ], "proteinEffect": { "hgvs": "ENSP00000499551.2:p.Ile131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825196" }, { "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000469431.6:c.216C>A" ], "proteinEffect": { "hgvs": "ENSP00000499654.2:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825198" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "C", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000470512.6:c.219C>A" ], "proteinEffect": { "hgvs": "ENSP00000499552.2:p.Ile73=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825207" }, { "coordinates": [ { "allele": "A", "end": 645, "referenceAllele": "C", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000472183.6:c.216C>A" ], "proteinEffect": { "hgvs": "ENSP00000499673.2:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825226" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000475610.2:n.899C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825263" }, { "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000476935.6:c.171C>A" ], "proteinEffect": { "hgvs": "ENSP00000499409.2:p.Ile57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825275" }, { "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000478585.6:c.174C>A" ], "proteinEffect": { "hgvs": "ENSP00000499762.2:p.Ile58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825291" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000480232.6:c.219C>A" ], "proteinEffect": { "hgvs": "ENSP00000499545.2:p.Ile73=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825308" }, { "coordinates": [ { "allele": "A", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000481039.6:c.174C>A" ], "proteinEffect": { "hgvs": "ENSP00000499767.2:p.Ile58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825319" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "C", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000482112.6:c.171C>A" ], "proteinEffect": { "hgvs": "ENSP00000499794.2:p.Ile57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825326" }, { "coordinates": [ { "allele": "A", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000485673.6:c.174C>A" ], "proteinEffect": { "hgvs": "ENSP00000499334.2:p.Ile58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825368" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "C", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000488546.6:c.174C>A" ], "proteinEffect": { "hgvs": "ENSP00000499332.2:p.Ile58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825395" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000488652.6:c.216C>A" ], "proteinEffect": { "hgvs": "ENSP00000499435.2:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825396" }, { "coordinates": [ { "allele": "A", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000492907.6:c.174C>A" ], "proteinEffect": { "hgvs": "ENSP00000499443.2:p.Ile58=" }, "referenceSequence": "http://reg.genome.network/refseq/RS825435" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000603546.2:c.216C>A" ], "proteinEffect": { "hgvs": "ENSP00000474802.2:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826357" }, { "coordinates": [ { "allele": "A", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000604005.6:c.216C>A" ], "proteinEffect": { "hgvs": "ENSP00000474219.2:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826360" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000663479.2:c.219C>A" ], "proteinEffect": { "hgvs": "ENSP00000499353.2:p.Ile73=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826843" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000667293.2:c.216C>A" ], "proteinEffect": { "hgvs": "ENSP00000499293.2:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826850" }, { "coordinates": [ { "allele": "A", "end": 2877, "referenceAllele": "C", "start": 2876 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000676826.2:c.2325C>A" ], "proteinEffect": { "hgvs": "ENSP00000504675.2:p.Ile775=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826929" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000682092.1:n.899C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827089" }, { "coordinates": [ { "allele": "A", "end": 2319, "referenceAllele": "C", "start": 2318 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000682134.1:n.2319C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827131" }, { "coordinates": [ { "allele": "A", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000682411.1:n.897C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827403" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000682590.1:n.899C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827580" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "C", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000682680.1:n.913C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827669" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "C", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000682803.1:c.66C>A" ], "proteinEffect": { "hgvs": "ENSP00000507069.1:p.Ile22=" }, "referenceSequence": "http://reg.genome.network/refseq/RS827792" }, { "coordinates": [ { "allele": "A", "end": 2721, "referenceAllele": "C", "start": 2720 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000682829.1:n.2721C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827817" }, { "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000682917.1:n.921C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827905" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000682986.1:n.899C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827973" }, { "coordinates": [ { "allele": "A", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000683015.1:c.1163C>A" ], "proteinEffect": { "hgvs": "ENSP00000506815.1:n.1163C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS828002" }, { "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "C", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000683632.1:n.908C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828604" }, { "coordinates": [ { "allele": "A", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000683932.1:n.897C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828898" }, { "coordinates": [ { "allele": "A", "end": 2771, "referenceAllele": "C", "start": 2770 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000684284.1:n.2771C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829240" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000684466.1:n.899C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829420" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000684644.1:n.899C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829595" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000684761.1:n.899C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829711" }, { "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "C", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000306090.12:c.297C>A" ], "proteinEffect": { "hgvs": "ENSP00000304472.12:p.Ile99=" }, "referenceSequence": "http://reg.genome.network/refseq/RS745255" }, { "coordinates": [ { "allele": "A", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000349036.8:c.2277C>A" ], "proteinEffect": { "hgvs": "ENSP00000265621.5:p.Ile759=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748390" }, { "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000354359.12:c.396C>A" ], "proteinEffect": { "hgvs": "ENSP00000346328.7:p.Ile132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748558" }, { "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000371085.8:c.393C>A" ], "proteinEffect": { "hgvs": "ENSP00000360126.3:p.Ile131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750720", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371085.8:c.393C>A" }, "RefSeq": { "hgvs": "NM_000516.7:c.393C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360126.3:p.Ile131=" }, "RefSeq": { "hgvs": "NP_000507.1:p.Ile131=" } } } }, { "coordinates": [ { "allele": "A", "end": 2872, "referenceAllele": "C", "start": 2871 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000371100.9:c.2322C>A" ], "proteinEffect": { "hgvs": "ENSP00000360141.3:p.Ile774=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750722", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371100.9:c.2322C>A" }, "RefSeq": { "hgvs": "NM_080425.4:c.2322C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360141.3:p.Ile774=" }, "RefSeq": { "hgvs": "NP_536350.2:p.Ile774=" } } } }, { "coordinates": [ { "allele": "A", "end": 1348, "referenceAllele": "C", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000419558.6:c.*251C>A" ], "proteinEffect": { "hgvs": "ENSP00000416234.2:n.*251C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS754796" }, { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "C", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000490374.6:n.558C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757638" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000657090.1:c.216C>A" ], "proteinEffect": { "hgvs": "ENSP00000499380.1:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772567" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000663479.1:c.219C>A" ], "proteinEffect": { "hgvs": "ENSP00000499353.1:p.Ile73=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772817" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000667293.1:c.264C>A" ], "proteinEffect": { "hgvs": "ENSP00000499293.1:p.Ile88=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772978" }, { "coordinates": [ { "allele": "A", "end": 2877, "referenceAllele": "C", "start": 2876 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000676826.1:c.2325C>A" ], "proteinEffect": { "hgvs": "ENSP00000504675.1:p.Ile775=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776498" }, { "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "C", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000265620.11:c.348C>A" ], "proteinEffect": { "hgvs": "ENSP00000265620.7:p.Ile116=" }, "referenceSequence": "http://reg.genome.network/refseq/RS251783" }, { "coordinates": [ { "allele": "A", "end": 93, "endIntronDirection": "-", "endIntronOffset": 6014, "referenceAllele": "C", "start": 93, "startIntronDirection": "-", "startIntronOffset": 6015 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000306090.11:c.94-6015C>A" ], "proteinEffect": { "hgvs": "ENSP00000304472.11:n.94-6015C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS255681" }, { "coordinates": [ { "allele": "A", "end": 1423, "referenceAllele": "C", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000313949.11:c.*296C>A" ], "proteinEffect": { "hgvs": "ENSP00000323571.7:n.*296C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS256883" }, { "coordinates": [ { "allele": "A", "end": 444, "referenceAllele": "C", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000349036.7:c.444C>A" ], "proteinEffect": { "hgvs": "ENSP00000265621.4:p.Ile148=" }, "referenceSequence": "http://reg.genome.network/refseq/RS262543" }, { "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000354359.11:c.396C>A" ], "proteinEffect": { "hgvs": "ENSP00000346328.7:p.Ile132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS263096" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000371075.7:c.*299C>A" ], "proteinEffect": { "hgvs": "ENSP00000360115.3:n.*299C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS268397", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371075.7:c.*299C>A" }, "RefSeq": { "hgvs": "NM_016592.5:c.*299C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360115.3:n.*299C>A" }, "RefSeq": { "hgvs": "NP_057676.1:n.*299C>A" } } } }, { "coordinates": [ { "allele": "A", "end": 817, "referenceAllele": "C", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000371085.7:c.393C>A" ], "proteinEffect": { "hgvs": "ENSP00000360126.3:p.Ile131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS268405" }, { "coordinates": [ { "allele": "A", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000371095.7:c.351C>A" ], "proteinEffect": { "hgvs": "ENSP00000360136.3:p.Ile117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS268408" }, { "coordinates": [ { "allele": "A", "end": 2874, "referenceAllele": "C", "start": 2873 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000371100.8:c.2322C>A" ], "proteinEffect": { "hgvs": "ENSP00000360141.3:p.Ile774=" }, "referenceSequence": "http://reg.genome.network/refseq/RS268412" }, { "coordinates": [ { "allele": "A", "end": 2283, "referenceAllele": "C", "start": 2282 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000371102.8:c.2280C>A" ], "proteinEffect": { "hgvs": "ENSP00000360143.4:p.Ile760=" }, "referenceSequence": "http://reg.genome.network/refseq/RS268413" }, { "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "C", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000419558.5:c.592C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS285944" }, { "coordinates": [ { "allele": "A", "end": 436, "referenceAllele": "C", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000450130.5:c.436C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS300558" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "C", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000462499.5:n.470C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306741" }, { "coordinates": [ { "allele": "A", "end": 2609, "referenceAllele": "C", "start": 2608 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000464624.6:n.2609C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS308408" }, { "coordinates": [ { "allele": "A", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000464788.5:n.321C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS308536" }, { "coordinates": [ { "allele": "A", "end": 334, "referenceAllele": "C", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000467227.5:n.334C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310397" }, { "coordinates": [ { "allele": "A", "end": 408, "referenceAllele": "C", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000467321.5:n.408C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310482" }, { "coordinates": [ { "allele": "A", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000468895.5:n.262C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS311705" }, { "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000469431.5:n.510C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS312115" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "C", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000470512.5:n.467C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS312931" }, { "coordinates": [ { "allele": "A", "end": 645, "referenceAllele": "C", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000472183.5:n.645C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS314220" }, { "coordinates": [ { "allele": "A", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000476196.5:n.686C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317312" }, { "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000476935.5:n.382C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317868" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000477931.5:n.508C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS318635" }, { "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "C", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000478585.5:n.406C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319161" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000480232.5:n.412C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320430" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000480975.5:n.392C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320997" }, { "coordinates": [ { "allele": "A", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000481039.5:n.310C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321045" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "C", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000482112.5:n.467C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321888" }, { "coordinates": [ { "allele": "A", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000485673.5:n.638C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324647" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000487862.5:n.627C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326324" }, { "coordinates": [ { "allele": "A", "end": 130, "referenceAllele": "C", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000487981.5:n.130C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326408" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "C", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000488546.5:n.252C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326823" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000488652.5:n.483C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326899" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000490374.5:n.511C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328213" }, { "coordinates": [ { "allele": "A", "end": 344, "referenceAllele": "C", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000492907.5:n.344C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS330185" }, { "coordinates": [ { "allele": "A", "end": 12, "referenceAllele": "C", "start": 11 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000493958.5:n.12C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS330998" }, { "coordinates": [ { "allele": "A", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000494081.5:n.136C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS331099" }, { "coordinates": [ { "allele": "A", "end": 1682, "referenceAllele": "C", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000496934.5:n.1682C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS333291" }, { "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000603546.1:c.216C>A" ], "proteinEffect": { "hgvs": "ENSP00000474802.1:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS398656" }, { "coordinates": [ { "allele": "A", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "ENST00000604005.5:c.216C>A" ], "proteinEffect": { "hgvs": "ENSP00000474219.1:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS398860" }, { "@id": "http://reg.genome.network/allele/PA2825205236", "coordinates": [ { "allele": "A", "end": 749, "referenceAllele": "C", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_000516.4:c.393C>A" ], "proteinEffect": { "hgvs": "NP_000507.1:p.Ile131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006572" }, { "@id": "http://reg.genome.network/allele/PA2825205236", "coordinates": [ { "allele": "A", "end": 817, "referenceAllele": "C", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_000516.5:c.393C>A" ], "proteinEffect": { "hgvs": "NP_000507.1:p.Ile131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006573" }, { "@id": "http://reg.genome.network/allele/PA2825451430", "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "C", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001077488.2:c.396C>A" ], "proteinEffect": { "hgvs": "NP_001070956.1:p.Ile132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS009996" }, { "@id": "http://reg.genome.network/allele/PA2825451430", "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001077488.3:c.396C>A" ], "proteinEffect": { "hgvs": "NP_001070956.1:p.Ile132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS009997" }, { "@id": "http://reg.genome.network/allele/PA2825451789", "coordinates": [ { "allele": "A", "end": 704, "referenceAllele": "C", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001077489.2:c.348C>A" ], "proteinEffect": { "hgvs": "NP_001070957.1:p.Ile116=" }, "referenceSequence": "http://reg.genome.network/refseq/RS009998" }, { "@id": "http://reg.genome.network/allele/PA2825451789", "coordinates": [ { "allele": "A", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001077489.3:c.348C>A" ], "proteinEffect": { "hgvs": "NP_001070957.1:p.Ile116=" }, "referenceSequence": "http://reg.genome.network/refseq/RS009999" }, { "coordinates": [ { "allele": "A", "end": 2607, "referenceAllele": "C", "start": 2606 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001077490.1:c.*254C>A" ], "proteinEffect": { "hgvs": "NP_001070958.1:n.*254C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS010000" }, { "coordinates": [ { "allele": "A", "end": 2607, "referenceAllele": "C", "start": 2606 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001077490.2:c.*254C>A" ], "proteinEffect": { "hgvs": "NP_001070958.1:n.*254C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS010001" }, { "@id": "http://reg.genome.network/allele/PA2826939167", "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001309840.1:c.216C>A" ], "proteinEffect": { "hgvs": "NP_001296769.1:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS026373" }, { "@id": "http://reg.genome.network/allele/PA2826939479", "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001309861.1:c.216C>A" ], "proteinEffect": { "hgvs": "NP_001296790.1:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS026375" }, { "coordinates": [ { "allele": "A", "end": 1404, "referenceAllele": "C", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_016592.2:c.*299C>A" ], "proteinEffect": { "hgvs": "NP_057676.1:n.*299C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS034813" }, { "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "C", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_016592.3:c.*299C>A" ], "proteinEffect": { "hgvs": "NP_057676.1:n.*299C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS034814" }, { "@id": "http://reg.genome.network/allele/PA2830155958", "coordinates": [ { "allele": "A", "end": 2607, "referenceAllele": "C", "start": 2606 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_080425.2:c.2322C>A" ], "proteinEffect": { "hgvs": "NP_536350.2:p.Ile774=" }, "referenceSequence": "http://reg.genome.network/refseq/RS040152" }, { "@id": "http://reg.genome.network/allele/PA2830155958", "coordinates": [ { "allele": "A", "end": 2607, "referenceAllele": "C", "start": 2606 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_080425.3:c.2322C>A" ], "proteinEffect": { "hgvs": "NP_536350.2:p.Ile774=" }, "referenceSequence": "http://reg.genome.network/refseq/RS040153" }, { "@id": "http://reg.genome.network/allele/PA2830156097", "coordinates": [ { "allele": "A", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_080426.2:c.351C>A" ], "proteinEffect": { "hgvs": "NP_536351.1:p.Ile117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS040154" }, { "@id": "http://reg.genome.network/allele/PA2830156097", "coordinates": [ { "allele": "A", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_080426.3:c.351C>A" ], "proteinEffect": { "hgvs": "NP_536351.1:p.Ile117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS040155" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "C", "start": 482 } ], "hgvs": [ "NR_003259.1:c.-4294966813C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS046237" }, { "coordinates": [ { "allele": "A", "end": 2597, "referenceAllele": "C", "start": 2596 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_017027812.2:c.2325C>A" ], "proteinEffect": { "hgvs": "XP_016883301.1:p.Ile775=" }, "referenceSequence": "http://reg.genome.network/refseq/RS577701" }, { "coordinates": [ { "allele": "A", "end": 2552, "referenceAllele": "C", "start": 2551 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_017027813.2:c.2280C>A" ], "proteinEffect": { "hgvs": "XP_016883302.1:p.Ile760=" }, "referenceSequence": "http://reg.genome.network/refseq/RS577702" }, { "coordinates": [ { "allele": "A", "end": 2549, "referenceAllele": "C", "start": 2548 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_017027814.2:c.2277C>A" ], "proteinEffect": { "hgvs": "XP_016883303.1:p.Ile759=" }, "referenceSequence": "http://reg.genome.network/refseq/RS577703" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "C", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_017027815.1:c.252C>A" ], "proteinEffect": { "hgvs": "XP_016883304.1:p.Ile84=" }, "referenceSequence": "http://reg.genome.network/refseq/RS577704" }, { "coordinates": [ { "allele": "A", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_017027816.1:c.171C>A" ], "proteinEffect": { "hgvs": "XP_016883305.1:p.Ile57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS577705" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "C", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_017027817.1:c.171C>A" ], "proteinEffect": { "hgvs": "XP_016883306.1:p.Ile57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS577706" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_017027818.2:c.171C>A" ], "proteinEffect": { "hgvs": "XP_016883307.1:p.Ile57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS577707" }, { "coordinates": [ { "allele": "A", "end": 351, "referenceAllele": "C", "start": 350 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_017027819.1:c.171C>A" ], "proteinEffect": { "hgvs": "XP_016883308.1:p.Ile57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS577708" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_017027820.1:c.171C>A" ], "proteinEffect": { "hgvs": "XP_016883309.1:p.Ile57=" }, "referenceSequence": "http://reg.genome.network/refseq/RS577709" }, { "coordinates": [ { "allele": "A", "end": 1460, "referenceAllele": "C", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_017027821.1:c.*296C>A" ], "proteinEffect": { "hgvs": "XP_016883310.1:n.*296C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS577710" }, { "coordinates": [ { "allele": "A", "end": 1418, "referenceAllele": "C", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_024451872.1:c.297C>A" ], "proteinEffect": { "hgvs": "XP_024307640.1:p.Ile99=" }, "referenceSequence": "http://reg.genome.network/refseq/RS585379" }, { "coordinates": [ { "allele": "A", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_024451873.1:c.216C>A" ], "proteinEffect": { "hgvs": "XP_024307641.1:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS585380" }, { "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_024451874.1:c.216C>A" ], "proteinEffect": { "hgvs": "XP_024307642.1:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS585381" }, { "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XM_024451875.1:c.216C>A" ], "proteinEffect": { "hgvs": "XP_024307643.1:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS585382" }, { "coordinates": [ { "allele": "A", "end": 1100, "referenceAllele": "C", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "XR_002958471.1:n.1100C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604596" }, { "@id": "http://reg.genome.network/allele/PA2825205236", "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_000516.6:c.393C>A" ], "proteinEffect": { "hgvs": "NP_000507.1:p.Ile131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674876" }, { "@id": "http://reg.genome.network/allele/PA2825451430", "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001077488.4:c.396C>A" ], "proteinEffect": { "hgvs": "NP_001070956.1:p.Ile132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676171" }, { "@id": "http://reg.genome.network/allele/PA2825451789", "coordinates": [ { "allele": "A", "end": 654, "referenceAllele": "C", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001077489.4:c.348C>A" ], "proteinEffect": { "hgvs": "NP_001070957.1:p.Ile116=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676172" }, { "@id": "http://reg.genome.network/allele/PA2826939167", "coordinates": [ { "allele": "A", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001309840.2:c.216C>A" ], "proteinEffect": { "hgvs": "NP_001296769.1:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS684048" }, { "@id": "http://reg.genome.network/allele/PA2826939479", "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001309861.2:c.216C>A" ], "proteinEffect": { "hgvs": "NP_001296790.1:p.Ile72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS684050" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_016592.4:c.*299C>A" ], "proteinEffect": { "hgvs": "NP_057676.1:n.*299C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS697757" }, { "@id": "http://reg.genome.network/allele/PA2830156097", "coordinates": [ { "allele": "A", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_080426.4:c.351C>A" ], "proteinEffect": { "hgvs": "NP_536351.1:p.Ile117=" }, "referenceSequence": "http://reg.genome.network/refseq/RS699509" }, { "@id": "http://reg.genome.network/allele/PA2825205236", "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_000516.7:c.393C>A" ], "proteinEffect": { "hgvs": "NP_000507.1:p.Ile131=" }, "referenceSequence": "http://reg.genome.network/refseq/RS710842", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371085.8:c.393C>A" }, "RefSeq": { "hgvs": "NM_000516.7:c.393C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360126.3:p.Ile131=" }, "RefSeq": { "hgvs": "NP_000507.1:p.Ile131=" } } } }, { "@id": "http://reg.genome.network/allele/PA2825451430", "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "C", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001077488.5:c.396C>A" ], "proteinEffect": { "hgvs": "NP_001070956.1:p.Ile132=" }, "referenceSequence": "http://reg.genome.network/refseq/RS711766" }, { "coordinates": [ { "allele": "A", "end": 2872, "referenceAllele": "C", "start": 2871 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_001077490.3:c.*254C>A" ], "proteinEffect": { "hgvs": "NP_001070958.1:n.*254C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS711767" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_016592.5:c.*299C>A" ], "proteinEffect": { "hgvs": "NP_057676.1:n.*299C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS728196", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371075.7:c.*299C>A" }, "RefSeq": { "hgvs": "NM_016592.5:c.*299C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360115.3:n.*299C>A" }, "RefSeq": { "hgvs": "NP_057676.1:n.*299C>A" } } } }, { "@id": "http://reg.genome.network/allele/PA2830155958", "coordinates": [ { "allele": "A", "end": 2872, "referenceAllele": "C", "start": 2871 } ], "gene": "http://reg.genome.network/gene/GN004392", "geneNCBI_id": 2778, "geneSymbol": "GNAS", "hgvs": [ "NM_080425.4:c.2322C>A" ], "proteinEffect": { "hgvs": "NP_536350.2:p.Ile774=" }, "referenceSequence": "http://reg.genome.network/refseq/RS729035", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371100.9:c.2322C>A" }, "RefSeq": { "hgvs": "NM_080425.4:c.2322C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360141.3:p.Ile774=" }, "RefSeq": { "hgvs": "NP_536350.2:p.Ile774=" } } } } ], "type": "nucleotide" }