{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA115730", "communityStandardTitle": [ "NM_004183.4(BEST1):c.715G>A (p.Val239Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17784[alleleid]", "alleleId": 17784, "preferredName": "NM_004183.4(BEST1):c.715G>A (p.Val239Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2745", "RCV": [ "RCV000002868", "RCV002054410" ], "variationId": 2745 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.61725618G>A?assembly=hg19", "id": "chr11:g.61725618G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.61958146G>A?assembly=hg38", "id": "chr11:g.61958146G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918290", "rs": 121918290 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 61958146, "referenceAllele": "G", "start": 61958145 } ], "hgvs": [ "NC_000011.10:g.61958146G>A", "CM000673.2:g.61958146G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 61725618, "referenceAllele": "G", "start": 61725617 } ], "hgvs": [ "NC_000011.9:g.61725618G>A", "CM000673.1:g.61725618G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 61482194, "referenceAllele": "G", "start": 61482193 } ], "hgvs": [ "NC_000011.8:g.61482194G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 13263, "referenceAllele": "G", "start": 13262 } ], "hgvs": [ "NG_009033.1:g.13263G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001393" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "ENST00000378043.9:c.715G>A" ], "proteinEffect": { "hgvs": "ENSP00000367282.4:p.Val239Met", "hgvsWellDefined": "ENSP00000367282.4:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS752014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378043.9:c.715G>A" }, "RefSeq": { "hgvs": "NM_004183.4:c.715G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367282.4:p.Val239Met" }, "RefSeq": { "hgvs": "NP_004174.1:p.Val239Met" } } } }, { "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "G", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "ENST00000378043.8:c.715G>A" ], "proteinEffect": { "hgvs": "ENSP00000367282.4:p.Val239Met", "hgvsWellDefined": "ENSP00000367282.4:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS271859" }, { "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "ENST00000449131.6:c.535G>A" ], "proteinEffect": { "hgvs": "ENSP00000399709.2:p.Val179Met", "hgvsWellDefined": "ENSP00000399709.2:p.Val179Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS300055" }, { "coordinates": [ { "allele": "A", "end": 1147, "referenceAllele": "G", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "ENST00000524877.5:n.1147G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS350974" }, { "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "G", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "ENST00000524926.5:c.715G>A" ], "proteinEffect": { "hgvs": "ENSP00000432681.1:p.Val239Met", "hgvsWellDefined": "ENSP00000432681.1:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS351019" }, { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "ENST00000526988.1:c.397G>A" ], "proteinEffect": { "hgvs": "ENSP00000433195.1:p.Val133Met", "hgvsWellDefined": "ENSP00000433195.1:p.Val133Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS352767" }, { "coordinates": [ { "allele": "A", "end": 638, "referenceAllele": "G", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "ENST00000529265.5:n.638G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS354674" }, { "coordinates": [ { "allele": "A", "end": 739, "endIntronDirection": "+", "endIntronOffset": 2195, "referenceAllele": "G", "start": 739, "startIntronDirection": "+", "startIntronOffset": 2194 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "ENST00000534553.5:c.163+2195G>A" ], "proteinEffect": { "hgvs": "ENSP00000431189.1:n.163+2195G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS359147" }, { "@id": "http://reg.genome.network/allele/PA2825831618", "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_001139443.1:c.535G>A" ], "proteinEffect": { "hgvs": "NP_001132915.1:p.Val179Met", "hgvsWellDefined": "NP_001132915.1:p.Val179Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012752" }, { "@id": "http://reg.genome.network/allele/PA2826849800", "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_001300786.1:c.535G>A" ], "proteinEffect": { "hgvs": "NP_001287715.1:p.Val179Met", "hgvsWellDefined": "NP_001287715.1:p.Val179Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS024846" }, { "@id": "http://reg.genome.network/allele/PA2826850210", "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "G", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_001300787.1:c.535G>A" ], "proteinEffect": { "hgvs": "NP_001287716.1:p.Val179Met", "hgvsWellDefined": "NP_001287716.1:p.Val179Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS024847" }, { "@id": "http://reg.genome.network/allele/PA092940", "coordinates": [ { "allele": "A", "end": 1295, "referenceAllele": "G", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_004183.3:c.715G>A" ], "proteinEffect": { "hgvs": "NP_004174.1:p.Val239Met", "hgvsWellDefined": "NP_004174.1:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS029361" }, { "coordinates": [ { "allele": "A", "end": 1373, "referenceAllele": "G", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_005274210.2:c.715G>A" ], "proteinEffect": { "hgvs": "XP_005274267.1:p.Val239Met", "hgvsWellDefined": "XP_005274267.1:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS067866" }, { "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "G", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_005274215.2:c.397G>A" ], "proteinEffect": { "hgvs": "XP_005274272.1:p.Val133Met", "hgvsWellDefined": "XP_005274272.1:p.Val133Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS067867" }, { "coordinates": [ { "allele": "A", "end": 1185, "referenceAllele": "G", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_005274216.2:c.535G>A" ], "proteinEffect": { "hgvs": "XP_005274273.1:p.Val179Met", "hgvsWellDefined": "XP_005274273.1:p.Val179Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS067868" }, { "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "G", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_005274218.3:c.397G>A" ], "proteinEffect": { "hgvs": "XP_005274275.1:p.Val133Met", "hgvsWellDefined": "XP_005274275.1:p.Val133Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS067869" }, { "coordinates": [ { "allele": "A", "end": 1373, "referenceAllele": "G", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_005274219.2:c.715G>A" ], "proteinEffect": { "hgvs": "XP_005274276.1:p.Val239Met", "hgvsWellDefined": "XP_005274276.1:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS067870" }, { "coordinates": [ { "allele": "A", "end": 1372, "endIntronDirection": "+", "endIntronOffset": 682, "referenceAllele": "G", "start": 1372, "startIntronDirection": "+", "startIntronOffset": 681 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_005274221.2:c.714+682G>A" ], "proteinEffect": { "hgvs": "XP_005274278.1:n.714+682G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS067871" }, { "coordinates": [ { "allele": "A", "end": 852, "referenceAllele": "G", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_011545229.1:c.715G>A" ], "proteinEffect": { "hgvs": "XP_011543531.1:p.Val239Met", "hgvsWellDefined": "XP_011543531.1:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS112133" }, { "coordinates": [ { "allele": "A", "end": 659, "referenceAllele": "G", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_011545230.1:c.622G>A" ], "proteinEffect": { "hgvs": "XP_011543532.1:p.Val208Met", "hgvsWellDefined": "XP_011543532.1:p.Val208Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS112134" }, { "coordinates": [ { "allele": "A", "end": 1230, "referenceAllele": "G", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_011545231.1:c.397G>A" ], "proteinEffect": { "hgvs": "XP_011543533.1:p.Val133Met", "hgvsWellDefined": "XP_011543533.1:p.Val133Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS112135" }, { "coordinates": [ { "allele": "A", "end": 1373, "referenceAllele": "G", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_011545232.1:c.715G>A" ], "proteinEffect": { "hgvs": "XP_011543534.1:p.Val239Met", "hgvsWellDefined": "XP_011543534.1:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS112136" }, { "@id": "http://reg.genome.network/allele/PA2828098383", "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "G", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_001363591.1:c.397G>A" ], "proteinEffect": { "hgvs": "NP_001350520.1:p.Val133Met", "hgvsWellDefined": "NP_001350520.1:p.Val133Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS523411" }, { "@id": "http://reg.genome.network/allele/PA2828099019", "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "G", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_001363592.1:c.715G>A" ], "proteinEffect": { "hgvs": "NP_001350521.1:p.Val239Met", "hgvsWellDefined": "NP_001350521.1:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS523412" }, { "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "G", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_001363593.1:c.-461G>A" ], "proteinEffect": { "hgvs": "NP_001350522.1:n.-461G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS523413" }, { "coordinates": [ { "allele": "A", "end": 1295, "referenceAllele": "G", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NR_134580.1:n.1295G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS527684" }, { "coordinates": [ { "allele": "A", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_005274210.4:c.715G>A" ], "proteinEffect": { "hgvs": "XP_005274267.1:p.Val239Met", "hgvsWellDefined": "XP_005274267.1:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS537573" }, { "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "G", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_005274215.4:c.397G>A" ], "proteinEffect": { "hgvs": "XP_005274272.1:p.Val133Met", "hgvsWellDefined": "XP_005274272.1:p.Val133Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS537574" }, { "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_005274216.4:c.535G>A" ], "proteinEffect": { "hgvs": "XP_005274273.1:p.Val179Met", "hgvsWellDefined": "XP_005274273.1:p.Val179Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS537575" }, { "coordinates": [ { "allele": "A", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_005274219.4:c.715G>A" ], "proteinEffect": { "hgvs": "XP_005274276.1:p.Val239Met", "hgvsWellDefined": "XP_005274276.1:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS537576" }, { "coordinates": [ { "allele": "A", "end": 1404, "endIntronDirection": "+", "endIntronOffset": 682, "referenceAllele": "G", "start": 1404, "startIntronDirection": "+", "startIntronOffset": 681 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_005274221.4:c.714+682G>A" ], "proteinEffect": { "hgvs": "XP_005274278.1:n.714+682G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS537577" }, { "coordinates": [ { "allele": "A", "end": 845, "referenceAllele": "G", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_011545229.3:c.715G>A" ], "proteinEffect": { "hgvs": "XP_011543531.1:p.Val239Met", "hgvsWellDefined": "XP_011543531.1:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS555999" }, { "coordinates": [ { "allele": "A", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_011545230.3:c.622G>A" ], "proteinEffect": { "hgvs": "XP_011543532.1:p.Val208Met", "hgvsWellDefined": "XP_011543532.1:p.Val208Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS556000" }, { "coordinates": [ { "allele": "A", "end": 1060, "referenceAllele": "G", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XM_017018230.2:c.397G>A" ], "proteinEffect": { "hgvs": "XP_016873719.1:p.Val133Met", "hgvsWellDefined": "XP_016873719.1:p.Val133Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS570220" }, { "coordinates": [ { "allele": "A", "end": 1213, "referenceAllele": "G", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XR_001747952.2:n.1213G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596028" }, { "coordinates": [ { "allele": "A", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XR_001747953.2:n.1405G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596029" }, { "coordinates": [ { "allele": "A", "end": 1404, "endIntronDirection": "+", "endIntronOffset": 682, "referenceAllele": "G", "start": 1404, "startIntronDirection": "+", "startIntronOffset": 681 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "XR_001747954.2:n.1404+682G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596030" }, { "coordinates": [ { "allele": "T", "end": 583, "referenceAllele": "C", "start": 582 } ], "hgvs": [ "XR_001748245.1:n.583C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596289" }, { "coordinates": [ { "allele": "T", "end": 505, "endIntronDirection": "+", "endIntronOffset": 78, "referenceAllele": "C", "start": 505, "startIntronDirection": "+", "startIntronOffset": 77 } ], "hgvs": [ "XR_002957249.1:n.505+78C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603385" }, { "@id": "http://reg.genome.network/allele/PA092940", "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_004183.4:c.715G>A" ], "proteinEffect": { "hgvs": "NP_004174.1:p.Val239Met", "hgvsWellDefined": "NP_004174.1:p.Val239Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS666351", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378043.9:c.715G>A" }, "RefSeq": { "hgvs": "NM_004183.4:c.715G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367282.4:p.Val239Met" }, "RefSeq": { "hgvs": "NP_004174.1:p.Val239Met" } } } }, { "@id": "http://reg.genome.network/allele/PA2825831618", "coordinates": [ { "allele": "A", "end": 640, "referenceAllele": "G", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_001139443.2:c.535G>A" ], "proteinEffect": { "hgvs": "NP_001132915.1:p.Val179Met", "hgvsWellDefined": "NP_001132915.1:p.Val179Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677465" }, { "@id": "http://reg.genome.network/allele/PA2826849800", "coordinates": [ { "allele": "A", "end": 640, "referenceAllele": "G", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_001300786.2:c.535G>A" ], "proteinEffect": { "hgvs": "NP_001287715.1:p.Val179Met", "hgvsWellDefined": "NP_001287715.1:p.Val179Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS683169" }, { "@id": "http://reg.genome.network/allele/PA2826850210", "coordinates": [ { "allele": "A", "end": 640, "referenceAllele": "G", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_001300787.2:c.535G>A" ], "proteinEffect": { "hgvs": "NP_001287716.1:p.Val179Met", "hgvsWellDefined": "NP_001287716.1:p.Val179Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS683170" }, { "@id": "http://reg.genome.network/allele/PA2828098383", "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_001363591.2:c.397G>A" ], "proteinEffect": { "hgvs": "NP_001350520.1:p.Val133Met", "hgvsWellDefined": "NP_001350520.1:p.Val133Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS690703" }, { "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NM_001363593.2:c.-461G>A" ], "proteinEffect": { "hgvs": "NP_001350522.1:n.-461G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS690704" }, { "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN012703", "geneNCBI_id": 7439, "geneSymbol": "BEST1", "hgvs": [ "NR_134580.2:n.828G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703493" } ], "type": "nucleotide" }