{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA121479", "communityStandardTitle": [ "NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26496[alleleid]", "alleleId": 26496, "preferredName": "NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11457", "RCV": [ "RCV000024285", "RCV001172474" ], "variationId": 11457 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.153792633A>T?assembly=hg19", "id": "chrX:g.153792633A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.154564418A>T?assembly=hg38", "id": "chrX:g.154564418A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137853327", "rs": 137853327 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 154564418, "referenceAllele": "A", "start": 154564417 } ], "hgvs": [ "NC_000023.11:g.154564418A>T", "CM000685.2:g.154564418A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 153792633, "referenceAllele": "A", "start": 153792632 } ], "hgvs": [ "NC_000023.10:g.153792633A>T", "CM000685.1:g.153792633A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 153445827, "referenceAllele": "A", "start": 153445826 } ], "hgvs": [ "NC_000023.9:g.153445827A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 27175, "referenceAllele": "A", "start": 27174 } ], "hgvs": [ "NG_009896.1:g.27175A>T", "LRG_70:g.27175A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001690" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1486, "referenceAllele": "A", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000413620.6:c.1181A>T" ], "proteinEffect": { "hgvs": "ENSP00000398579.2:p.Asp394Val", "hgvsWellDefined": "ENSP00000398579.2:p.Asp394Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS824635" }, { "coordinates": [ { "allele": "T", "end": 1540, "referenceAllele": "A", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000422680.6:c.1217A>T" ], "proteinEffect": { "hgvs": "ENSP00000390368.3:p.Asp406Val", "hgvsWellDefined": "ENSP00000390368.3:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS824718" }, { "coordinates": [ { "allele": "T", "end": 1425, "referenceAllele": "A", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000440286.6:c.1217A>T" ], "proteinEffect": { "hgvs": "ENSP00000394934.2:p.Asp406Val", "hgvsWellDefined": "ENSP00000394934.2:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS824922" }, { "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "A", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000445622.6:c.1217A>T" ], "proteinEffect": { "hgvs": "ENSP00000395205.2:p.Asp406Val", "hgvsWellDefined": "ENSP00000395205.2:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS824967" }, { "coordinates": [ { "allele": "T", "end": 958, "referenceAllele": "A", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000615186.5:c.815A>T" ], "proteinEffect": { "hgvs": "ENSP00000479144.2:p.Asp272Val", "hgvsWellDefined": "ENSP00000479144.2:p.Asp272Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS826470" }, { "coordinates": [ { "allele": "T", "end": 1439, "referenceAllele": "A", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000689906.1:c.1064A>T" ], "proteinEffect": { "hgvs": "ENSP00000508630.1:p.Asp355Val", "hgvsWellDefined": "ENSP00000508630.1:p.Asp355Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS832435" }, { "coordinates": [ { "allele": "T", "end": 1415, "referenceAllele": "A", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000692948.1:c.1274A>T" ], "proteinEffect": { "hgvs": "ENSP00000508773.1:p.Asp425Val", "hgvsWellDefined": "ENSP00000508773.1:p.Asp425Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS833976" }, { "coordinates": [ { "allele": "T", "end": 1358, "referenceAllele": "A", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000594239.6:c.1217A>T" ], "proteinEffect": { "hgvs": "ENSP00000471166.1:p.Asp406Val", "hgvsWellDefined": "ENSP00000471166.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS761341", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000594239.6:c.1217A>T" }, "RefSeq": { "hgvs": "NM_001099857.5:c.1217A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000471166.1:p.Asp406Val" }, "RefSeq": { "hgvs": "NP_001093327.1:p.Asp406Val" } } } }, { "coordinates": [ { "allele": "T", "end": 1671, "referenceAllele": "A", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000594239.5:c.1217A>T" ], "proteinEffect": { "hgvs": "ENSP00000471166.1:p.Asp406Val", "hgvsWellDefined": "ENSP00000471166.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS394562" }, { "coordinates": [ { "allele": "T", "end": 1475, "referenceAllele": "A", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000611071.4:c.1217A>T" ], "proteinEffect": { "hgvs": "ENSP00000479662.1:p.Asp406Val", "hgvsWellDefined": "ENSP00000479662.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS400682" }, { "coordinates": [ { "allele": "T", "end": 1039, "referenceAllele": "A", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000611176.4:c.920A>T" ], "proteinEffect": { "hgvs": "ENSP00000478616.1:p.Asp307Val", "hgvsWellDefined": "ENSP00000478616.1:p.Asp307Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS400734" }, { "coordinates": [ { "allele": "T", "end": 1357, "referenceAllele": "A", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000612051.1:c.*1209A>T" ], "proteinEffect": { "hgvs": "ENSP00000480431.1:n.*1209A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS401135" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "A", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000615874.4:c.1193A>T" ], "proteinEffect": { "hgvs": "ENSP00000483381.1:p.Asp398Val", "hgvsWellDefined": "ENSP00000483381.1:p.Asp398Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS402800" }, { "coordinates": [ { "allele": "T", "end": 1334, "referenceAllele": "A", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000617207.4:c.1214A>T" ], "proteinEffect": { "hgvs": "ENSP00000484023.1:p.Asp405Val", "hgvsWellDefined": "ENSP00000484023.1:p.Asp405Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS403383" }, { "coordinates": [ { "allele": "T", "end": 1441, "referenceAllele": "A", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000618670.4:c.1421A>T" ], "proteinEffect": { "hgvs": "ENSP00000483825.1:p.Asp474Val", "hgvsWellDefined": "ENSP00000483825.1:p.Asp474Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS404042" }, { "coordinates": [ { "allele": "T", "end": 1319, "referenceAllele": "A", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "ENST00000619941.4:c.1196A>T" ], "proteinEffect": { "hgvs": "ENSP00000478979.1:p.Asp399Val", "hgvsWellDefined": "ENSP00000478979.1:p.Asp399Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS404596" }, { "@id": "http://reg.genome.network/allele/PA915972780", "coordinates": [ { "allele": "T", "end": 1441, "referenceAllele": "A", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001099856.3:c.1421A>T" ], "proteinEffect": { "hgvs": "NP_001093326.2:p.Asp474Val", "hgvsWellDefined": "NP_001093326.2:p.Asp474Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010835" }, { "@id": "http://reg.genome.network/allele/PA099640", "coordinates": [ { "allele": "T", "end": 1631, "referenceAllele": "A", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001099857.2:c.1217A>T" ], "proteinEffect": { "hgvs": "NP_001093327.1:p.Asp406Val", "hgvsWellDefined": "NP_001093327.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010836" }, { "@id": "http://reg.genome.network/allele/PA2825883958", "coordinates": [ { "allele": "T", "end": 1334, "referenceAllele": "A", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001145255.2:c.920A>T" ], "proteinEffect": { "hgvs": "NP_001138727.1:p.Asp307Val", "hgvsWellDefined": "NP_001138727.1:p.Asp307Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS013536" }, { "@id": "http://reg.genome.network/allele/PA121481", "coordinates": [ { "allele": "T", "end": 1475, "referenceAllele": "A", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_003639.4:c.1217A>T" ], "proteinEffect": { "hgvs": "NP_003630.1:p.Asp406Val", "hgvsWellDefined": "NP_003630.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS028868" }, { "coordinates": [ { "allele": "T", "end": 1433, "referenceAllele": "A", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "XM_005274760.3:c.1418A>T" ], "proteinEffect": { "hgvs": "XP_005274817.1:p.Asp473Val", "hgvsWellDefined": "XP_005274817.1:p.Asp473Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS068073" }, { "coordinates": [ { "allele": "T", "end": 1336, "endIntronDirection": "+", "endIntronOffset": 398, "referenceAllele": "A", "start": 1336, "startIntronDirection": "+", "startIntronOffset": 397 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "XM_005274761.3:c.1321+398A>T" ], "proteinEffect": { "hgvs": "XP_005274818.1:n.1321+398A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS068074" }, { "coordinates": [ { "allele": "T", "end": 1507, "referenceAllele": "A", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "XM_005274764.3:c.1214A>T" ], "proteinEffect": { "hgvs": "XP_005274821.1:p.Asp405Val", "hgvsWellDefined": "XP_005274821.1:p.Asp405Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS068075" }, { "coordinates": [ { "allele": "T", "end": 1283, "referenceAllele": "A", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "XM_011531203.1:c.1268A>T" ], "proteinEffect": { "hgvs": "XP_011529505.1:p.Asp423Val", "hgvsWellDefined": "XP_011529505.1:p.Asp423Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS098243" }, { "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "A", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "XM_011531204.1:c.1217A>T" ], "proteinEffect": { "hgvs": "XP_011529506.1:p.Asp406Val", "hgvsWellDefined": "XP_011529506.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS098244" }, { "coordinates": [ { "allele": "T", "end": 1564, "referenceAllele": "A", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "XM_011531205.1:c.1217A>T" ], "proteinEffect": { "hgvs": "XP_011529507.1:p.Asp406Val", "hgvsWellDefined": "XP_011529507.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS098245" }, { "@id": "http://reg.genome.network/allele/PA915972780", "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "A", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001099856.4:c.1421A>T" ], "proteinEffect": { "hgvs": "NP_001093326.2:p.Asp474Val", "hgvsWellDefined": "NP_001093326.2:p.Asp474Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511307" }, { "@id": "http://reg.genome.network/allele/PA2827108015", "coordinates": [ { "allele": "T", "end": 1380, "referenceAllele": "A", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001321396.1:c.1217A>T" ], "proteinEffect": { "hgvs": "NP_001308325.1:p.Asp406Val", "hgvsWellDefined": "NP_001308325.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS514258" }, { "@id": "http://reg.genome.network/allele/PA2827108117", "coordinates": [ { "allele": "T", "end": 1628, "referenceAllele": "A", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001321397.1:c.1214A>T" ], "proteinEffect": { "hgvs": "NP_001308326.1:p.Asp405Val", "hgvsWellDefined": "NP_001308326.1:p.Asp405Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS514259" }, { "@id": "http://reg.genome.network/allele/PA915972780", "coordinates": [ { "allele": "T", "end": 1473, "referenceAllele": "A", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001099856.6:c.1421A>T" ], "proteinEffect": { "hgvs": "NP_001093326.2:p.Asp474Val", "hgvsWellDefined": "NP_001093326.2:p.Asp474Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676529" }, { "@id": "http://reg.genome.network/allele/PA099640", "coordinates": [ { "allele": "T", "end": 1358, "referenceAllele": "A", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001099857.4:c.1217A>T" ], "proteinEffect": { "hgvs": "NP_001093327.1:p.Asp406Val", "hgvsWellDefined": "NP_001093327.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676530" }, { "@id": "http://reg.genome.network/allele/PA2825883958", "coordinates": [ { "allele": "T", "end": 1061, "referenceAllele": "A", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001145255.4:c.920A>T" ], "proteinEffect": { "hgvs": "NP_001138727.1:p.Asp307Val", "hgvsWellDefined": "NP_001138727.1:p.Asp307Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS677840" }, { "@id": "http://reg.genome.network/allele/PA2827108015", "coordinates": [ { "allele": "T", "end": 1408, "referenceAllele": "A", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001321396.3:c.1217A>T" ], "proteinEffect": { "hgvs": "NP_001308325.1:p.Asp406Val", "hgvsWellDefined": "NP_001308325.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS685332" }, { "@id": "http://reg.genome.network/allele/PA2827108117", "coordinates": [ { "allele": "T", "end": 1355, "referenceAllele": "A", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001321397.3:c.1214A>T" ], "proteinEffect": { "hgvs": "NP_001308326.1:p.Asp405Val", "hgvsWellDefined": "NP_001308326.1:p.Asp405Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS685333" }, { "@id": "http://reg.genome.network/allele/PA2828711941", "coordinates": [ { "allele": "T", "end": 1386, "referenceAllele": "A", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001377312.1:c.1217A>T" ], "proteinEffect": { "hgvs": "NP_001364241.1:p.Asp406Val", "hgvsWellDefined": "NP_001364241.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS695096" }, { "@id": "http://reg.genome.network/allele/PA2828712008", "coordinates": [ { "allele": "T", "end": 1383, "referenceAllele": "A", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001377313.1:c.1214A>T" ], "proteinEffect": { "hgvs": "NP_001364242.1:p.Asp405Val", "hgvsWellDefined": "NP_001364242.1:p.Asp405Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS695097" }, { "@id": "http://reg.genome.network/allele/PA2828712069", "coordinates": [ { "allele": "T", "end": 1202, "referenceAllele": "A", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001377314.1:c.1061A>T" ], "proteinEffect": { "hgvs": "NP_001364243.1:p.Asp354Val", "hgvsWellDefined": "NP_001364243.1:p.Asp354Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS695098" }, { "@id": "http://reg.genome.network/allele/PA2828712115", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "A", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001377315.1:c.848A>T" ], "proteinEffect": { "hgvs": "NP_001364244.1:p.Asp283Val", "hgvsWellDefined": "NP_001364244.1:p.Asp283Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS695099" }, { "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "A", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NR_165197.1:n.1086A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706041" }, { "@id": "http://reg.genome.network/allele/PA099640", "coordinates": [ { "allele": "T", "end": 1358, "referenceAllele": "A", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN005961", "geneNCBI_id": 8517, "geneSymbol": "IKBKG", "hgvs": [ "NM_001099857.5:c.1217A>T" ], "proteinEffect": { "hgvs": "NP_001093327.1:p.Asp406Val", "hgvsWellDefined": "NP_001093327.1:p.Asp406Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711993", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000594239.6:c.1217A>T" }, "RefSeq": { "hgvs": "NM_001099857.5:c.1217A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000471166.1:p.Asp406Val" }, "RefSeq": { "hgvs": "NP_001093327.1:p.Asp406Val" } } } } ], "type": "nucleotide" }