{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA377641843", "communityStandardTitle": [ "NM_016341.4(PLCE1):c.5259A>T (p.Lys1753Asn)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.96058227A>T?assembly=hg19", "id": "chr10:g.96058227A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.94298470A>T?assembly=hg38", "id": "chr10:g.94298470A>T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 94298470, "referenceAllele": "A", "start": 94298469 } ], "hgvs": [ "NC_000010.11:g.94298470A>T", "CM000672.2:g.94298470A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 96058227, "referenceAllele": "A", "start": 96058226 } ], "hgvs": [ "NC_000010.10:g.96058227A>T", "CM000672.1:g.96058227A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 96048217, "referenceAllele": "A", "start": 96048216 } ], "hgvs": [ "NC_000010.9:g.96048217A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 309482, "referenceAllele": "A", "start": 309481 } ], "hgvs": [ "NG_015799.1:g.309482A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002831" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4335, "referenceAllele": "A", "start": 4334 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371375.2:c.4335A>T" ], "proteinEffect": { "hgvs": "ENSP00000360426.1:p.Lys1445Asn", "hgvsWellDefined": "ENSP00000360426.1:p.Lys1445Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS824257" }, { "coordinates": [ { "allele": "T", "end": 5546, "referenceAllele": "A", "start": 5545 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000685253.1:c.*1802A>T" ], "proteinEffect": { "hgvs": "ENSP00000509405.1:n.*1802A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829968" }, { "coordinates": [ { "allele": "T", "end": 1994, "referenceAllele": "A", "start": 1993 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000685889.1:n.1994A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830298" }, { "coordinates": [ { "allele": "T", "end": 678, "referenceAllele": "A", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000686807.1:n.678A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830755" }, { "coordinates": [ { "allele": "T", "end": 5736, "referenceAllele": "A", "start": 5735 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000686954.1:c.*543A>T" ], "proteinEffect": { "hgvs": "ENSP00000508416.1:n.*543A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS830832" }, { "coordinates": [ { "allele": "T", "end": 4287, "referenceAllele": "A", "start": 4286 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000688810.1:c.4287A>T" ], "proteinEffect": { "hgvs": "ENSP00000509140.1:p.Lys1429Asn", "hgvsWellDefined": "ENSP00000509140.1:p.Lys1429Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS831832" }, { "coordinates": [ { "allele": "T", "end": 9467, "referenceAllele": "A", "start": 9466 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000689233.1:n.9467A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832066" }, { "coordinates": [ { "allele": "T", "end": 2932, "referenceAllele": "A", "start": 2931 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000690340.1:n.2932A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832652" }, { "coordinates": [ { "allele": "T", "end": 5457, "referenceAllele": "A", "start": 5456 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000692286.1:c.5127A>T" ], "proteinEffect": { "hgvs": "ENSP00000509490.1:p.Lys1709Asn", "hgvsWellDefined": "ENSP00000509490.1:p.Lys1709Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS833642" }, { "coordinates": [ { "allele": "T", "end": 5800, "referenceAllele": "A", "start": 5799 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000692396.1:c.5211A>T" ], "proteinEffect": { "hgvs": "ENSP00000508605.1:p.Lys1737Asn", "hgvsWellDefined": "ENSP00000508605.1:p.Lys1737Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS833700" }, { "coordinates": [ { "allele": "T", "end": 5951, "referenceAllele": "A", "start": 5950 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371380.8:c.5259A>T" ], "proteinEffect": { "hgvs": "ENSP00000360431.2:p.Lys1753Asn", "hgvsWellDefined": "ENSP00000360431.2:p.Lys1753Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS750778", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371380.8:c.5259A>T" }, "RefSeq": { "hgvs": "NM_016341.4:c.5259A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360431.2:p.Lys1753Asn" }, "RefSeq": { "hgvs": "NP_057425.3:p.Lys1753Asn" } } } }, { "coordinates": [ { "allele": "T", "end": 4288, "referenceAllele": "A", "start": 4287 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371385.8:c.4233A>T" ], "proteinEffect": { "hgvs": "ENSP00000360438.4:p.Lys1411Asn", "hgvsWellDefined": "ENSP00000360438.4:p.Lys1411Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS750781" }, { "coordinates": [ { "allele": "T", "end": 3814, "referenceAllele": "A", "start": 3813 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000674738.1:c.3814A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774660" }, { "coordinates": [ { "allele": "T", "end": 3375, "referenceAllele": "A", "start": 3374 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000674827.1:c.3375A>T" ], "proteinEffect": { "hgvs": "ENSP00000502523.1:p.Lys1125Asn", "hgvsWellDefined": "ENSP00000502523.1:p.Lys1125Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS774733" }, { "coordinates": [ { "allele": "T", "end": 4335, "referenceAllele": "A", "start": 4334 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675218.1:c.4335A>T" ], "proteinEffect": { "hgvs": "ENSP00000501910.1:p.Lys1445Asn", "hgvsWellDefined": "ENSP00000501910.1:p.Lys1445Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775069" }, { "coordinates": [ { "allele": "T", "end": 5492, "referenceAllele": "A", "start": 5491 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675487.1:c.*1192A>T" ], "proteinEffect": { "hgvs": "ENSP00000502340.1:n.*1192A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775302" }, { "coordinates": [ { "allele": "T", "end": 4528, "referenceAllele": "A", "start": 4527 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675718.1:c.4528A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775499" }, { "coordinates": [ { "allele": "T", "end": 4159, "referenceAllele": "A", "start": 4158 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000676102.1:c.4104A>T" ], "proteinEffect": { "hgvs": "ENSP00000502811.1:p.Lys1368Asn", "hgvsWellDefined": "ENSP00000502811.1:p.Lys1368Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775832" }, { "coordinates": [ { "allele": "T", "end": 5893, "referenceAllele": "A", "start": 5892 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000260766.7:c.5259A>T" ], "proteinEffect": { "hgvs": "ENSP00000260766.3:p.Lys1753Asn", "hgvsWellDefined": "ENSP00000260766.3:p.Lys1753Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS250633" }, { "coordinates": [ { "allele": "T", "end": 4335, "referenceAllele": "A", "start": 4334 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371375.1:c.4335A>T" ], "proteinEffect": { "hgvs": "ENSP00000360426.1:p.Lys1445Asn", "hgvsWellDefined": "ENSP00000360426.1:p.Lys1445Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS268554" }, { "coordinates": [ { "allele": "T", "end": 5494, "referenceAllele": "A", "start": 5493 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371380.7:c.5259A>T" ], "proteinEffect": { "hgvs": "ENSP00000360431.2:p.Lys1753Asn", "hgvsWellDefined": "ENSP00000360431.2:p.Lys1753Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS268558" }, { "coordinates": [ { "allele": "T", "end": 4404, "referenceAllele": "A", "start": 4403 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371385.7:c.4335A>T" ], "proteinEffect": { "hgvs": "ENSP00000360438.3:p.Lys1445Asn", "hgvsWellDefined": "ENSP00000360438.3:p.Lys1445Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS268561" }, { "coordinates": [ { "allele": "T", "end": 4404, "referenceAllele": "A", "start": 4403 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001165979.2:c.4335A>T" ], "proteinEffect": { "hgvs": "NP_001159451.1:p.Lys1445Asn", "hgvsWellDefined": "NP_001159451.1:p.Lys1445Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS014755" }, { "coordinates": [ { "allele": "T", "end": 5845, "referenceAllele": "A", "start": 5844 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001288989.1:c.5211A>T" ], "proteinEffect": { "hgvs": "NP_001275918.1:p.Lys1737Asn", "hgvsWellDefined": "NP_001275918.1:p.Lys1737Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS023698" }, { "coordinates": [ { "allele": "T", "end": 5893, "referenceAllele": "A", "start": 5892 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_016341.3:c.5259A>T" ], "proteinEffect": { "hgvs": "NP_057425.3:p.Lys1753Asn", "hgvsWellDefined": "NP_057425.3:p.Lys1753Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS034631" }, { "coordinates": [ { "allele": "T", "end": 5885, "referenceAllele": "A", "start": 5884 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717885.2:c.5301A>T" ], "proteinEffect": { "hgvs": "XP_006717948.1:p.Lys1767Asn", "hgvsWellDefined": "XP_006717948.1:p.Lys1767Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS072360" }, { "coordinates": [ { "allele": "T", "end": 5885, "referenceAllele": "A", "start": 5884 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717886.2:c.5301A>T" ], "proteinEffect": { "hgvs": "XP_006717949.1:p.Lys1767Asn", "hgvsWellDefined": "XP_006717949.1:p.Lys1767Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS072361" }, { "coordinates": [ { "allele": "T", "end": 5882, "referenceAllele": "A", "start": 5881 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717888.2:c.5298A>T" ], "proteinEffect": { "hgvs": "XP_006717951.1:p.Lys1766Asn", "hgvsWellDefined": "XP_006717951.1:p.Lys1766Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS072362" }, { "coordinates": [ { "allele": "T", "end": 5837, "referenceAllele": "A", "start": 5836 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717889.2:c.5253A>T" ], "proteinEffect": { "hgvs": "XP_006717952.1:p.Lys1751Asn", "hgvsWellDefined": "XP_006717952.1:p.Lys1751Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS072363" }, { "coordinates": [ { "allele": "T", "end": 4399, "referenceAllele": "A", "start": 4398 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717890.1:c.4377A>T" ], "proteinEffect": { "hgvs": "XP_006717953.1:p.Lys1459Asn", "hgvsWellDefined": "XP_006717953.1:p.Lys1459Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS072364" }, { "coordinates": [ { "allele": "T", "end": 5684, "referenceAllele": "A", "start": 5683 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539849.1:c.5301A>T" ], "proteinEffect": { "hgvs": "XP_011538151.1:p.Lys1767Asn", "hgvsWellDefined": "XP_011538151.1:p.Lys1767Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106799" }, { "coordinates": [ { "allele": "T", "end": 4181, "referenceAllele": "A", "start": 4180 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539850.1:c.4146A>T" ], "proteinEffect": { "hgvs": "XP_011538152.1:p.Lys1382Asn", "hgvsWellDefined": "XP_011538152.1:p.Lys1382Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS106800" }, { "coordinates": [ { "allele": "T", "end": 5883, "referenceAllele": "A", "start": 5882 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717885.4:c.5301A>T" ], "proteinEffect": { "hgvs": "XP_006717948.1:p.Lys1767Asn", "hgvsWellDefined": "XP_006717948.1:p.Lys1767Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS539503" }, { "coordinates": [ { "allele": "T", "end": 5880, "referenceAllele": "A", "start": 5879 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717888.4:c.5298A>T" ], "proteinEffect": { "hgvs": "XP_006717951.1:p.Lys1766Asn", "hgvsWellDefined": "XP_006717951.1:p.Lys1766Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS539504" }, { "coordinates": [ { "allele": "T", "end": 5835, "referenceAllele": "A", "start": 5834 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717889.4:c.5253A>T" ], "proteinEffect": { "hgvs": "XP_006717952.1:p.Lys1751Asn", "hgvsWellDefined": "XP_006717952.1:p.Lys1751Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS539505" }, { "coordinates": [ { "allele": "T", "end": 4399, "referenceAllele": "A", "start": 4398 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717890.3:c.4377A>T" ], "proteinEffect": { "hgvs": "XP_006717953.1:p.Lys1459Asn", "hgvsWellDefined": "XP_006717953.1:p.Lys1459Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS539506" }, { "coordinates": [ { "allele": "T", "end": 7040, "referenceAllele": "A", "start": 7039 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539849.3:c.5301A>T" ], "proteinEffect": { "hgvs": "XP_011538151.1:p.Lys1767Asn", "hgvsWellDefined": "XP_011538151.1:p.Lys1767Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553823" }, { "coordinates": [ { "allele": "T", "end": 5528, "referenceAllele": "A", "start": 5527 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539850.3:c.4146A>T" ], "proteinEffect": { "hgvs": "XP_011538152.1:p.Lys1382Asn", "hgvsWellDefined": "XP_011538152.1:p.Lys1382Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553824" }, { "coordinates": [ { "allele": "T", "end": 5930, "referenceAllele": "A", "start": 5929 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016310.2:c.5301A>T" ], "proteinEffect": { "hgvs": "XP_016871799.1:p.Lys1767Asn", "hgvsWellDefined": "XP_016871799.1:p.Lys1767Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS568781" }, { "coordinates": [ { "allele": "T", "end": 5883, "referenceAllele": "A", "start": 5882 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016311.2:c.5301A>T" ], "proteinEffect": { "hgvs": "XP_016871800.1:p.Lys1767Asn", "hgvsWellDefined": "XP_016871800.1:p.Lys1767Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS568782" }, { "coordinates": [ { "allele": "T", "end": 4309, "referenceAllele": "A", "start": 4308 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016312.2:c.4287A>T" ], "proteinEffect": { "hgvs": "XP_016871801.1:p.Lys1429Asn", "hgvsWellDefined": "XP_016871801.1:p.Lys1429Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS568783" }, { "coordinates": [ { "allele": "T", "end": 5903, "referenceAllele": "A", "start": 5902 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001288989.2:c.5211A>T" ], "proteinEffect": { "hgvs": "NP_001275918.1:p.Lys1737Asn", "hgvsWellDefined": "NP_001275918.1:p.Lys1737Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS682560" }, { "coordinates": [ { "allele": "T", "end": 5951, "referenceAllele": "A", "start": 5950 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_016341.4:c.5259A>T" ], "proteinEffect": { "hgvs": "NP_057425.3:p.Lys1753Asn", "hgvsWellDefined": "NP_057425.3:p.Lys1753Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS697711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371380.8:c.5259A>T" }, "RefSeq": { "hgvs": "NM_016341.4:c.5259A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360431.2:p.Lys1753Asn" }, "RefSeq": { "hgvs": "NP_057425.3:p.Lys1753Asn" } } } } ], "type": "nucleotide" }