{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA377641834", "communityStandardTitle": [ "NM_016341.4(PLCE1):c.5255C>G (p.Pro1752Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.96058223C>G?assembly=hg19", "id": "chr10:g.96058223C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.94298466C>G?assembly=hg38", "id": "chr10:g.94298466C>G" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 94298466, "referenceAllele": "C", "start": 94298465 } ], "hgvs": [ "NC_000010.11:g.94298466C>G", "CM000672.2:g.94298466C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 96058223, "referenceAllele": "C", "start": 96058222 } ], "hgvs": [ "NC_000010.10:g.96058223C>G", "CM000672.1:g.96058223C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 96048213, "referenceAllele": "C", "start": 96048212 } ], "hgvs": [ "NC_000010.9:g.96048213C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "G", "end": 309478, "referenceAllele": "C", "start": 309477 } ], "hgvs": [ "NG_015799.1:g.309478C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002831" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 4331, "referenceAllele": "C", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371375.2:c.4331C>G" ], "proteinEffect": { "hgvs": "ENSP00000360426.1:p.Pro1444Arg", "hgvsWellDefined": "ENSP00000360426.1:p.Pro1444Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS824257" }, { "coordinates": [ { "allele": "G", "end": 5542, "referenceAllele": "C", "start": 5541 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000685253.1:c.*1798C>G" ], "proteinEffect": { "hgvs": "ENSP00000509405.1:n.*1798C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS829968" }, { "coordinates": [ { "allele": "G", "end": 1990, "referenceAllele": "C", "start": 1989 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000685889.1:n.1990C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS830298" }, { "coordinates": [ { "allele": "G", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000686807.1:n.674C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS830755" }, { "coordinates": [ { "allele": "G", "end": 5732, "referenceAllele": "C", "start": 5731 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000686954.1:c.*539C>G" ], "proteinEffect": { "hgvs": "ENSP00000508416.1:n.*539C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS830832" }, { "coordinates": [ { "allele": "G", "end": 4283, "referenceAllele": "C", "start": 4282 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000688810.1:c.4283C>G" ], "proteinEffect": { "hgvs": "ENSP00000509140.1:p.Pro1428Arg", "hgvsWellDefined": "ENSP00000509140.1:p.Pro1428Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS831832" }, { "coordinates": [ { "allele": "G", "end": 9463, "referenceAllele": "C", "start": 9462 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000689233.1:n.9463C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832066" }, { "coordinates": [ { "allele": "G", "end": 2928, "referenceAllele": "C", "start": 2927 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000690340.1:n.2928C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832652" }, { "coordinates": [ { "allele": "G", "end": 5453, "referenceAllele": "C", "start": 5452 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000692286.1:c.5123C>G" ], "proteinEffect": { "hgvs": "ENSP00000509490.1:p.Pro1708Arg", "hgvsWellDefined": "ENSP00000509490.1:p.Pro1708Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS833642" }, { "coordinates": [ { "allele": "G", "end": 5796, "referenceAllele": "C", "start": 5795 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000692396.1:c.5207C>G" ], "proteinEffect": { "hgvs": "ENSP00000508605.1:p.Pro1736Arg", "hgvsWellDefined": "ENSP00000508605.1:p.Pro1736Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS833700" }, { "coordinates": [ { "allele": "G", "end": 5947, "referenceAllele": "C", "start": 5946 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371380.8:c.5255C>G" ], "proteinEffect": { "hgvs": "ENSP00000360431.2:p.Pro1752Arg", "hgvsWellDefined": "ENSP00000360431.2:p.Pro1752Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS750778", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371380.8:c.5255C>G" }, "RefSeq": { "hgvs": "NM_016341.4:c.5255C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360431.2:p.Pro1752Arg" }, "RefSeq": { "hgvs": "NP_057425.3:p.Pro1752Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 4284, "referenceAllele": "C", "start": 4283 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371385.8:c.4229C>G" ], "proteinEffect": { "hgvs": "ENSP00000360438.4:p.Pro1410Arg", "hgvsWellDefined": "ENSP00000360438.4:p.Pro1410Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS750781" }, { "coordinates": [ { "allele": "G", "end": 3810, "referenceAllele": "C", "start": 3809 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000674738.1:c.3810C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS774660" }, { "coordinates": [ { "allele": "G", "end": 3371, "referenceAllele": "C", "start": 3370 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000674827.1:c.3371C>G" ], "proteinEffect": { "hgvs": "ENSP00000502523.1:p.Pro1124Arg", "hgvsWellDefined": "ENSP00000502523.1:p.Pro1124Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS774733" }, { "coordinates": [ { "allele": "G", "end": 4331, "referenceAllele": "C", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675218.1:c.4331C>G" ], "proteinEffect": { "hgvs": "ENSP00000501910.1:p.Pro1444Arg", "hgvsWellDefined": "ENSP00000501910.1:p.Pro1444Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS775069" }, { "coordinates": [ { "allele": "G", "end": 5488, "referenceAllele": "C", "start": 5487 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675487.1:c.*1188C>G" ], "proteinEffect": { "hgvs": "ENSP00000502340.1:n.*1188C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS775302" }, { "coordinates": [ { "allele": "G", "end": 4524, "referenceAllele": "C", "start": 4523 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675718.1:c.4524C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS775499" }, { "coordinates": [ { "allele": "G", "end": 4155, "referenceAllele": "C", "start": 4154 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000676102.1:c.4100C>G" ], "proteinEffect": { "hgvs": "ENSP00000502811.1:p.Pro1367Arg", "hgvsWellDefined": "ENSP00000502811.1:p.Pro1367Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS775832" }, { "coordinates": [ { "allele": "G", "end": 5889, "referenceAllele": "C", "start": 5888 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000260766.7:c.5255C>G" ], "proteinEffect": { "hgvs": "ENSP00000260766.3:p.Pro1752Arg", "hgvsWellDefined": "ENSP00000260766.3:p.Pro1752Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS250633" }, { "coordinates": [ { "allele": "G", "end": 4331, "referenceAllele": "C", "start": 4330 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371375.1:c.4331C>G" ], "proteinEffect": { "hgvs": "ENSP00000360426.1:p.Pro1444Arg", "hgvsWellDefined": "ENSP00000360426.1:p.Pro1444Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS268554" }, { "coordinates": [ { "allele": "G", "end": 5490, "referenceAllele": "C", "start": 5489 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371380.7:c.5255C>G" ], "proteinEffect": { "hgvs": "ENSP00000360431.2:p.Pro1752Arg", "hgvsWellDefined": "ENSP00000360431.2:p.Pro1752Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS268558" }, { "coordinates": [ { "allele": "G", "end": 4400, "referenceAllele": "C", "start": 4399 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371385.7:c.4331C>G" ], "proteinEffect": { "hgvs": "ENSP00000360438.3:p.Pro1444Arg", "hgvsWellDefined": "ENSP00000360438.3:p.Pro1444Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS268561" }, { "coordinates": [ { "allele": "G", "end": 4400, "referenceAllele": "C", "start": 4399 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001165979.2:c.4331C>G" ], "proteinEffect": { "hgvs": "NP_001159451.1:p.Pro1444Arg", "hgvsWellDefined": "NP_001159451.1:p.Pro1444Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS014755" }, { "coordinates": [ { "allele": "G", "end": 5841, "referenceAllele": "C", "start": 5840 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001288989.1:c.5207C>G" ], "proteinEffect": { "hgvs": "NP_001275918.1:p.Pro1736Arg", "hgvsWellDefined": "NP_001275918.1:p.Pro1736Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS023698" }, { "coordinates": [ { "allele": "G", "end": 5889, "referenceAllele": "C", "start": 5888 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_016341.3:c.5255C>G" ], "proteinEffect": { "hgvs": "NP_057425.3:p.Pro1752Arg", "hgvsWellDefined": "NP_057425.3:p.Pro1752Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS034631" }, { "coordinates": [ { "allele": "G", "end": 5881, "referenceAllele": "C", "start": 5880 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717885.2:c.5297C>G" ], "proteinEffect": { "hgvs": "XP_006717948.1:p.Pro1766Arg", "hgvsWellDefined": "XP_006717948.1:p.Pro1766Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS072360" }, { "coordinates": [ { "allele": "G", "end": 5881, "referenceAllele": "C", "start": 5880 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717886.2:c.5297C>G" ], "proteinEffect": { "hgvs": "XP_006717949.1:p.Pro1766Arg", "hgvsWellDefined": "XP_006717949.1:p.Pro1766Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS072361" }, { "coordinates": [ { "allele": "G", "end": 5878, "referenceAllele": "C", "start": 5877 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717888.2:c.5294C>G" ], "proteinEffect": { "hgvs": "XP_006717951.1:p.Pro1765Arg", "hgvsWellDefined": "XP_006717951.1:p.Pro1765Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS072362" }, { "coordinates": [ { "allele": "G", "end": 5833, "referenceAllele": "C", "start": 5832 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717889.2:c.5249C>G" ], "proteinEffect": { "hgvs": "XP_006717952.1:p.Pro1750Arg", "hgvsWellDefined": "XP_006717952.1:p.Pro1750Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS072363" }, { "coordinates": [ { "allele": "G", "end": 4395, "referenceAllele": "C", "start": 4394 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717890.1:c.4373C>G" ], "proteinEffect": { "hgvs": "XP_006717953.1:p.Pro1458Arg", "hgvsWellDefined": "XP_006717953.1:p.Pro1458Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS072364" }, { "coordinates": [ { "allele": "G", "end": 5680, "referenceAllele": "C", "start": 5679 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539849.1:c.5297C>G" ], "proteinEffect": { "hgvs": "XP_011538151.1:p.Pro1766Arg", "hgvsWellDefined": "XP_011538151.1:p.Pro1766Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS106799" }, { "coordinates": [ { "allele": "G", "end": 4177, "referenceAllele": "C", "start": 4176 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539850.1:c.4142C>G" ], "proteinEffect": { "hgvs": "XP_011538152.1:p.Pro1381Arg", "hgvsWellDefined": "XP_011538152.1:p.Pro1381Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS106800" }, { "coordinates": [ { "allele": "G", "end": 5879, "referenceAllele": "C", "start": 5878 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717885.4:c.5297C>G" ], "proteinEffect": { "hgvs": "XP_006717948.1:p.Pro1766Arg", "hgvsWellDefined": "XP_006717948.1:p.Pro1766Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS539503" }, { "coordinates": [ { "allele": "G", "end": 5876, "referenceAllele": "C", "start": 5875 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717888.4:c.5294C>G" ], "proteinEffect": { "hgvs": "XP_006717951.1:p.Pro1765Arg", "hgvsWellDefined": "XP_006717951.1:p.Pro1765Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS539504" }, { "coordinates": [ { "allele": "G", "end": 5831, "referenceAllele": "C", "start": 5830 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717889.4:c.5249C>G" ], "proteinEffect": { "hgvs": "XP_006717952.1:p.Pro1750Arg", "hgvsWellDefined": "XP_006717952.1:p.Pro1750Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS539505" }, { "coordinates": [ { "allele": "G", "end": 4395, "referenceAllele": "C", "start": 4394 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717890.3:c.4373C>G" ], "proteinEffect": { "hgvs": "XP_006717953.1:p.Pro1458Arg", "hgvsWellDefined": "XP_006717953.1:p.Pro1458Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS539506" }, { "coordinates": [ { "allele": "G", "end": 7036, "referenceAllele": "C", "start": 7035 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539849.3:c.5297C>G" ], "proteinEffect": { "hgvs": "XP_011538151.1:p.Pro1766Arg", "hgvsWellDefined": "XP_011538151.1:p.Pro1766Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS553823" }, { "coordinates": [ { "allele": "G", "end": 5524, "referenceAllele": "C", "start": 5523 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539850.3:c.4142C>G" ], "proteinEffect": { "hgvs": "XP_011538152.1:p.Pro1381Arg", "hgvsWellDefined": "XP_011538152.1:p.Pro1381Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS553824" }, { "coordinates": [ { "allele": "G", "end": 5926, "referenceAllele": "C", "start": 5925 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016310.2:c.5297C>G" ], "proteinEffect": { "hgvs": "XP_016871799.1:p.Pro1766Arg", "hgvsWellDefined": "XP_016871799.1:p.Pro1766Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS568781" }, { "coordinates": [ { "allele": "G", "end": 5879, "referenceAllele": "C", "start": 5878 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016311.2:c.5297C>G" ], "proteinEffect": { "hgvs": "XP_016871800.1:p.Pro1766Arg", "hgvsWellDefined": "XP_016871800.1:p.Pro1766Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS568782" }, { "coordinates": [ { "allele": "G", "end": 4305, "referenceAllele": "C", "start": 4304 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016312.2:c.4283C>G" ], "proteinEffect": { "hgvs": "XP_016871801.1:p.Pro1428Arg", "hgvsWellDefined": "XP_016871801.1:p.Pro1428Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS568783" }, { "coordinates": [ { "allele": "G", "end": 5899, "referenceAllele": "C", "start": 5898 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001288989.2:c.5207C>G" ], "proteinEffect": { "hgvs": "NP_001275918.1:p.Pro1736Arg", "hgvsWellDefined": "NP_001275918.1:p.Pro1736Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS682560" }, { "coordinates": [ { "allele": "G", "end": 5947, "referenceAllele": "C", "start": 5946 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_016341.4:c.5255C>G" ], "proteinEffect": { "hgvs": "NP_057425.3:p.Pro1752Arg", "hgvsWellDefined": "NP_057425.3:p.Pro1752Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS697711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371380.8:c.5255C>G" }, "RefSeq": { "hgvs": "NM_016341.4:c.5255C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360431.2:p.Pro1752Arg" }, "RefSeq": { "hgvs": "NP_057425.3:p.Pro1752Arg" } } } } ], "type": "nucleotide" }