{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356362902", "communityStandardTitle": [ "NM_020041.3(SLC2A9):c.592C>G (p.Arg198Gly)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.9982305G>C?assembly=hg19", "id": "chr4:g.9982305G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.9980681G>C?assembly=hg38", "id": "chr4:g.9980681G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908322", "rs": 121908322 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 9980681, "referenceAllele": "G", "start": 9980680 } ], "hgvs": [ "NC_000004.12:g.9980681G>C", "CM000666.2:g.9980681G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 9982305, "referenceAllele": "G", "start": 9982304 } ], "hgvs": [ "NC_000004.11:g.9982305G>C", "CM000666.1:g.9982305G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 9591403, "referenceAllele": "G", "start": 9591402 } ], "hgvs": [ "NC_000004.10:g.9591403G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "G", "end": 64568, "referenceAllele": "C", "start": 64567 } ], "hgvs": [ "NG_011540.1:g.64568C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001802" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "ENST00000264784.8:c.592C>G" ], "proteinEffect": { "hgvs": "ENSP00000264784.3:p.Arg198Gly", "hgvsWellDefined": "ENSP00000264784.3:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS742727", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264784.8:c.592C>G" }, "RefSeq": { "hgvs": "NM_020041.3:c.592C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264784.3:p.Arg198Gly" }, "RefSeq": { "hgvs": "NP_064425.2:p.Arg198Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "ENST00000264784.7:c.592C>G" ], "proteinEffect": { "hgvs": "ENSP00000264784.3:p.Arg198Gly", "hgvsWellDefined": "ENSP00000264784.3:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS251589" }, { "coordinates": [ { "allele": "G", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "ENST00000309065.7:c.505C>G" ], "proteinEffect": { "hgvs": "ENSP00000311383.3:p.Arg169Gly", "hgvsWellDefined": "ENSP00000311383.3:p.Arg169Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS256150" }, { "coordinates": [ { "allele": "G", "end": 626, "referenceAllele": "C", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "ENST00000505104.5:n.626C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS336980" }, { "coordinates": [ { "allele": "G", "end": 723, "referenceAllele": "C", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "ENST00000506583.5:c.505C>G" ], "proteinEffect": { "hgvs": "ENSP00000422209.1:p.Arg169Gly", "hgvsWellDefined": "ENSP00000422209.1:p.Arg169Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS338094" }, { "coordinates": [ { "allele": "G", "end": 649, "referenceAllele": "C", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "ENST00000513129.1:c.505C>G" ], "proteinEffect": { "hgvs": "ENSP00000426800.1:p.Arg169Gly", "hgvsWellDefined": "ENSP00000426800.1:p.Arg169Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS342950" }, { "coordinates": [ { "allele": "G", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "NM_001001290.1:c.505C>G" ], "proteinEffect": { "hgvs": "NP_001001290.1:p.Arg169Gly", "hgvsWellDefined": "NP_001001290.1:p.Arg169Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS007025" }, { "@id": "http://reg.genome.network/allele/PA3069888462", "coordinates": [ { "allele": "G", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "NM_020041.2:c.592C>G" ], "proteinEffect": { "hgvs": "NP_064425.2:p.Arg198Gly", "hgvsWellDefined": "NP_064425.2:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS036175" }, { "coordinates": [ { "allele": "G", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_006713968.2:c.592C>G" ], "proteinEffect": { "hgvs": "XP_006714031.1:p.Arg198Gly", "hgvsWellDefined": "XP_006714031.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS070437" }, { "coordinates": [ { "allele": "G", "end": 626, "referenceAllele": "C", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_006713969.2:c.505C>G" ], "proteinEffect": { "hgvs": "XP_006714032.1:p.Arg169Gly", "hgvsWellDefined": "XP_006714032.1:p.Arg169Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS070438" }, { "coordinates": [ { "allele": "G", "end": 691, "referenceAllele": "C", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513856.1:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512158.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512158.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081088" }, { "coordinates": [ { "allele": "G", "end": 626, "referenceAllele": "C", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513857.1:c.505C>G" ], "proteinEffect": { "hgvs": "XP_011512159.1:p.Arg169Gly", "hgvsWellDefined": "XP_011512159.1:p.Arg169Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081089" }, { "coordinates": [ { "allele": "G", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513858.1:c.505C>G" ], "proteinEffect": { "hgvs": "XP_011512160.1:p.Arg169Gly", "hgvsWellDefined": "XP_011512160.1:p.Arg169Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081090" }, { "coordinates": [ { "allele": "G", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513859.1:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512161.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512161.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081091" }, { "coordinates": [ { "allele": "G", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513860.1:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512162.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512162.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081092" }, { "coordinates": [ { "allele": "G", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513861.1:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512163.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512163.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081093" }, { "coordinates": [ { "allele": "G", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513862.1:c.196C>G" ], "proteinEffect": { "hgvs": "XP_011512164.1:p.Arg66Gly", "hgvsWellDefined": "XP_011512164.1:p.Arg66Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081094" }, { "coordinates": [ { "allele": "G", "end": 628, "referenceAllele": "C", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513863.1:c.196C>G" ], "proteinEffect": { "hgvs": "XP_011512165.1:p.Arg66Gly", "hgvsWellDefined": "XP_011512165.1:p.Arg66Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081095" }, { "coordinates": [ { "allele": "G", "end": 258, "referenceAllele": "C", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513864.1:c.184C>G" ], "proteinEffect": { "hgvs": "XP_011512166.1:p.Arg62Gly", "hgvsWellDefined": "XP_011512166.1:p.Arg62Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081096" }, { "coordinates": [ { "allele": "G", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513865.1:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512167.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512167.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081097" }, { "coordinates": [ { "allele": "G", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513866.1:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512168.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512168.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081098" }, { "coordinates": [ { "allele": "G", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513867.1:c.34C>G" ], "proteinEffect": { "hgvs": "XP_011512169.1:p.Arg12Gly", "hgvsWellDefined": "XP_011512169.1:p.Arg12Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081099" }, { "coordinates": [ { "allele": "G", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513868.1:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512170.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512170.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS081100" }, { "coordinates": [ { "allele": "G", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XR_925341.1:n.688C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS122245" }, { "coordinates": [ { "allele": "G", "end": 769, "referenceAllele": "C", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_006713968.4:c.592C>G" ], "proteinEffect": { "hgvs": "XP_006714031.1:p.Arg198Gly", "hgvsWellDefined": "XP_006714031.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS538622" }, { "coordinates": [ { "allele": "G", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513856.3:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512158.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512158.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS543060" }, { "coordinates": [ { "allele": "G", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513859.3:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512161.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512161.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS543061" }, { "coordinates": [ { "allele": "G", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513860.3:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512162.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512162.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS543062" }, { "coordinates": [ { "allele": "G", "end": 766, "referenceAllele": "C", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513861.3:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512163.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512163.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS543063" }, { "coordinates": [ { "allele": "G", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513862.3:c.196C>G" ], "proteinEffect": { "hgvs": "XP_011512164.1:p.Arg66Gly", "hgvsWellDefined": "XP_011512164.1:p.Arg66Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS543064" }, { "coordinates": [ { "allele": "G", "end": 205, "referenceAllele": "C", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513864.2:c.184C>G" ], "proteinEffect": { "hgvs": "XP_011512166.1:p.Arg62Gly", "hgvsWellDefined": "XP_011512166.1:p.Arg62Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS543065" }, { "coordinates": [ { "allele": "G", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513865.2:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512167.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512167.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS543066" }, { "coordinates": [ { "allele": "G", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513866.2:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512168.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512168.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS543067" }, { "coordinates": [ { "allele": "G", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513867.3:c.34C>G" ], "proteinEffect": { "hgvs": "XP_011512169.1:p.Arg12Gly", "hgvsWellDefined": "XP_011512169.1:p.Arg12Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS543068" }, { "coordinates": [ { "allele": "G", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_011513868.2:c.592C>G" ], "proteinEffect": { "hgvs": "XP_011512170.1:p.Arg198Gly", "hgvsWellDefined": "XP_011512170.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS543069" }, { "coordinates": [ { "allele": "G", "end": 780, "referenceAllele": "C", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_017008457.2:c.592C>G" ], "proteinEffect": { "hgvs": "XP_016863946.1:p.Arg198Gly", "hgvsWellDefined": "XP_016863946.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS562958" }, { "coordinates": [ { "allele": "G", "end": 767, "referenceAllele": "C", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_017008458.2:c.592C>G" ], "proteinEffect": { "hgvs": "XP_016863947.1:p.Arg198Gly", "hgvsWellDefined": "XP_016863947.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS562959" }, { "coordinates": [ { "allele": "G", "end": 297, "referenceAllele": "C", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_017008459.1:c.130C>G" ], "proteinEffect": { "hgvs": "XP_016863948.1:p.Arg44Gly", "hgvsWellDefined": "XP_016863948.1:p.Arg44Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS562960" }, { "coordinates": [ { "allele": "G", "end": 2307, "referenceAllele": "C", "start": 2306 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_017008460.2:c.196C>G" ], "proteinEffect": { "hgvs": "XP_016863949.1:p.Arg66Gly", "hgvsWellDefined": "XP_016863949.1:p.Arg66Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS562961" }, { "coordinates": [ { "allele": "G", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_024454150.1:c.592C>G" ], "proteinEffect": { "hgvs": "XP_024309918.1:p.Arg198Gly", "hgvsWellDefined": "XP_024309918.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS587520" }, { "coordinates": [ { "allele": "G", "end": 2476, "referenceAllele": "C", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_024454151.1:c.205C>G" ], "proteinEffect": { "hgvs": "XP_024309919.1:p.Arg69Gly", "hgvsWellDefined": "XP_024309919.1:p.Arg69Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS587521" }, { "coordinates": [ { "allele": "G", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_024454152.1:c.592C>G" ], "proteinEffect": { "hgvs": "XP_024309920.1:p.Arg198Gly", "hgvsWellDefined": "XP_024309920.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS587522" }, { "coordinates": [ { "allele": "G", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XM_024454153.1:c.592C>G" ], "proteinEffect": { "hgvs": "XP_024309921.1:p.Arg198Gly", "hgvsWellDefined": "XP_024309921.1:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS587523" }, { "coordinates": [ { "allele": "G", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XR_001741290.1:n.765C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591305" }, { "coordinates": [ { "allele": "G", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XR_001741291.1:n.765C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS591306" }, { "coordinates": [ { "allele": "G", "end": 769, "referenceAllele": "C", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "XR_925341.3:n.769C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS607989" }, { "@id": "http://reg.genome.network/allele/PA3069888462", "coordinates": [ { "allele": "G", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "NM_020041.3:c.592C>G" ], "proteinEffect": { "hgvs": "NP_064425.2:p.Arg198Gly", "hgvsWellDefined": "NP_064425.2:p.Arg198Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS669879", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264784.8:c.592C>G" }, "RefSeq": { "hgvs": "NM_020041.3:c.592C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264784.3:p.Arg198Gly" }, "RefSeq": { "hgvs": "NP_064425.2:p.Arg198Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN013446", "geneNCBI_id": 56606, "geneSymbol": "SLC2A9", "hgvs": [ "NM_001001290.2:c.505C>G" ], "proteinEffect": { "hgvs": "NP_001001290.1:p.Arg169Gly", "hgvsWellDefined": "NP_001001290.1:p.Arg169Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS710906" } ], "type": "nucleotide" }