{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA377641683", "communityStandardTitle": [ "NM_016341.4(PLCE1):c.5182A>T (p.Ile1728Phe)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.96058150A>T?assembly=hg19", "id": "chr10:g.96058150A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.94298393A>T?assembly=hg38", "id": "chr10:g.94298393A>T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 94298393, "referenceAllele": "A", "start": 94298392 } ], "hgvs": [ "NC_000010.11:g.94298393A>T", "CM000672.2:g.94298393A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 96058150, "referenceAllele": "A", "start": 96058149 } ], "hgvs": [ "NC_000010.10:g.96058150A>T", "CM000672.1:g.96058150A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 96048140, "referenceAllele": "A", "start": 96048139 } ], "hgvs": [ "NC_000010.9:g.96048140A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 309405, "referenceAllele": "A", "start": 309404 } ], "hgvs": [ "NG_015799.1:g.309405A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002831" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4258, "referenceAllele": "A", "start": 4257 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371375.2:c.4258A>T" ], "proteinEffect": { "hgvs": "ENSP00000360426.1:p.Ile1420Phe", "hgvsWellDefined": "ENSP00000360426.1:p.Ile1420Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS824257" }, { "coordinates": [ { "allele": "T", "end": 5469, "referenceAllele": "A", "start": 5468 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000685253.1:c.*1725A>T" ], "proteinEffect": { "hgvs": "ENSP00000509405.1:n.*1725A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829968" }, { "coordinates": [ { "allele": "T", "end": 1917, "referenceAllele": "A", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000685889.1:n.1917A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830298" }, { "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "A", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000686807.1:n.601A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830755" }, { "coordinates": [ { "allele": "T", "end": 5659, "referenceAllele": "A", "start": 5658 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000686954.1:c.*466A>T" ], "proteinEffect": { "hgvs": "ENSP00000508416.1:n.*466A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS830832" }, { "coordinates": [ { "allele": "T", "end": 4210, "referenceAllele": "A", "start": 4209 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000688810.1:c.4210A>T" ], "proteinEffect": { "hgvs": "ENSP00000509140.1:p.Ile1404Phe", "hgvsWellDefined": "ENSP00000509140.1:p.Ile1404Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS831832" }, { "coordinates": [ { "allele": "T", "end": 9390, "referenceAllele": "A", "start": 9389 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000689233.1:n.9390A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832066" }, { "coordinates": [ { "allele": "T", "end": 2855, "referenceAllele": "A", "start": 2854 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000690340.1:n.2855A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832652" }, { "coordinates": [ { "allele": "T", "end": 5380, "referenceAllele": "A", "start": 5379 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000692286.1:c.5050A>T" ], "proteinEffect": { "hgvs": "ENSP00000509490.1:p.Ile1684Phe", "hgvsWellDefined": "ENSP00000509490.1:p.Ile1684Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS833642" }, { "coordinates": [ { "allele": "T", "end": 5723, "referenceAllele": "A", "start": 5722 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000692396.1:c.5134A>T" ], "proteinEffect": { "hgvs": "ENSP00000508605.1:p.Ile1712Phe", "hgvsWellDefined": "ENSP00000508605.1:p.Ile1712Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS833700" }, { "coordinates": [ { "allele": "T", "end": 5874, "referenceAllele": "A", "start": 5873 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371380.8:c.5182A>T" ], "proteinEffect": { "hgvs": "ENSP00000360431.2:p.Ile1728Phe", "hgvsWellDefined": "ENSP00000360431.2:p.Ile1728Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS750778", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371380.8:c.5182A>T" }, "RefSeq": { "hgvs": "NM_016341.4:c.5182A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360431.2:p.Ile1728Phe" }, "RefSeq": { "hgvs": "NP_057425.3:p.Ile1728Phe" } } } }, { "coordinates": [ { "allele": "T", "end": 4211, "referenceAllele": "A", "start": 4210 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371385.8:c.4156A>T" ], "proteinEffect": { "hgvs": "ENSP00000360438.4:p.Ile1386Phe", "hgvsWellDefined": "ENSP00000360438.4:p.Ile1386Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS750781" }, { "coordinates": [ { "allele": "T", "end": 3737, "referenceAllele": "A", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000674738.1:c.3737A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774660" }, { "coordinates": [ { "allele": "T", "end": 3298, "referenceAllele": "A", "start": 3297 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000674827.1:c.3298A>T" ], "proteinEffect": { "hgvs": "ENSP00000502523.1:p.Ile1100Phe", "hgvsWellDefined": "ENSP00000502523.1:p.Ile1100Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS774733" }, { "coordinates": [ { "allele": "T", "end": 4258, "referenceAllele": "A", "start": 4257 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675218.1:c.4258A>T" ], "proteinEffect": { "hgvs": "ENSP00000501910.1:p.Ile1420Phe", "hgvsWellDefined": "ENSP00000501910.1:p.Ile1420Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS775069" }, { "coordinates": [ { "allele": "T", "end": 5415, "referenceAllele": "A", "start": 5414 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675487.1:c.*1115A>T" ], "proteinEffect": { "hgvs": "ENSP00000502340.1:n.*1115A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775302" }, { "coordinates": [ { "allele": "T", "end": 4451, "referenceAllele": "A", "start": 4450 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000675718.1:c.4451A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775499" }, { "coordinates": [ { "allele": "T", "end": 4082, "referenceAllele": "A", "start": 4081 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000676102.1:c.4027A>T" ], "proteinEffect": { "hgvs": "ENSP00000502811.1:p.Ile1343Phe", "hgvsWellDefined": "ENSP00000502811.1:p.Ile1343Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS775832" }, { "coordinates": [ { "allele": "T", "end": 5816, "referenceAllele": "A", "start": 5815 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000260766.7:c.5182A>T" ], "proteinEffect": { "hgvs": "ENSP00000260766.3:p.Ile1728Phe", "hgvsWellDefined": "ENSP00000260766.3:p.Ile1728Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS250633" }, { "coordinates": [ { "allele": "T", "end": 4258, "referenceAllele": "A", "start": 4257 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371375.1:c.4258A>T" ], "proteinEffect": { "hgvs": "ENSP00000360426.1:p.Ile1420Phe", "hgvsWellDefined": "ENSP00000360426.1:p.Ile1420Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS268554" }, { "coordinates": [ { "allele": "T", "end": 5417, "referenceAllele": "A", "start": 5416 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371380.7:c.5182A>T" ], "proteinEffect": { "hgvs": "ENSP00000360431.2:p.Ile1728Phe", "hgvsWellDefined": "ENSP00000360431.2:p.Ile1728Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS268558" }, { "coordinates": [ { "allele": "T", "end": 4327, "referenceAllele": "A", "start": 4326 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371385.7:c.4258A>T" ], "proteinEffect": { "hgvs": "ENSP00000360438.3:p.Ile1420Phe", "hgvsWellDefined": "ENSP00000360438.3:p.Ile1420Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS268561" }, { "coordinates": [ { "allele": "T", "end": 4327, "referenceAllele": "A", "start": 4326 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001165979.2:c.4258A>T" ], "proteinEffect": { "hgvs": "NP_001159451.1:p.Ile1420Phe", "hgvsWellDefined": "NP_001159451.1:p.Ile1420Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS014755" }, { "coordinates": [ { "allele": "T", "end": 5768, "referenceAllele": "A", "start": 5767 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001288989.1:c.5134A>T" ], "proteinEffect": { "hgvs": "NP_001275918.1:p.Ile1712Phe", "hgvsWellDefined": "NP_001275918.1:p.Ile1712Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS023698" }, { "coordinates": [ { "allele": "T", "end": 5816, "referenceAllele": "A", "start": 5815 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_016341.3:c.5182A>T" ], "proteinEffect": { "hgvs": "NP_057425.3:p.Ile1728Phe", "hgvsWellDefined": "NP_057425.3:p.Ile1728Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS034631" }, { "coordinates": [ { "allele": "T", "end": 5808, "referenceAllele": "A", "start": 5807 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717885.2:c.5224A>T" ], "proteinEffect": { "hgvs": "XP_006717948.1:p.Ile1742Phe", "hgvsWellDefined": "XP_006717948.1:p.Ile1742Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS072360" }, { "coordinates": [ { "allele": "T", "end": 5808, "referenceAllele": "A", "start": 5807 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717886.2:c.5224A>T" ], "proteinEffect": { "hgvs": "XP_006717949.1:p.Ile1742Phe", "hgvsWellDefined": "XP_006717949.1:p.Ile1742Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS072361" }, { "coordinates": [ { "allele": "T", "end": 5805, "referenceAllele": "A", "start": 5804 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717888.2:c.5221A>T" ], "proteinEffect": { "hgvs": "XP_006717951.1:p.Ile1741Phe", "hgvsWellDefined": "XP_006717951.1:p.Ile1741Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS072362" }, { "coordinates": [ { "allele": "T", "end": 5760, "referenceAllele": "A", "start": 5759 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717889.2:c.5176A>T" ], "proteinEffect": { "hgvs": "XP_006717952.1:p.Ile1726Phe", "hgvsWellDefined": "XP_006717952.1:p.Ile1726Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS072363" }, { "coordinates": [ { "allele": "T", "end": 4322, "referenceAllele": "A", "start": 4321 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717890.1:c.4300A>T" ], "proteinEffect": { "hgvs": "XP_006717953.1:p.Ile1434Phe", "hgvsWellDefined": "XP_006717953.1:p.Ile1434Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS072364" }, { "coordinates": [ { "allele": "T", "end": 5607, "referenceAllele": "A", "start": 5606 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539849.1:c.5224A>T" ], "proteinEffect": { "hgvs": "XP_011538151.1:p.Ile1742Phe", "hgvsWellDefined": "XP_011538151.1:p.Ile1742Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS106799" }, { "coordinates": [ { "allele": "T", "end": 4104, "referenceAllele": "A", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539850.1:c.4069A>T" ], "proteinEffect": { "hgvs": "XP_011538152.1:p.Ile1357Phe", "hgvsWellDefined": "XP_011538152.1:p.Ile1357Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS106800" }, { "coordinates": [ { "allele": "T", "end": 5806, "referenceAllele": "A", "start": 5805 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717885.4:c.5224A>T" ], "proteinEffect": { "hgvs": "XP_006717948.1:p.Ile1742Phe", "hgvsWellDefined": "XP_006717948.1:p.Ile1742Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS539503" }, { "coordinates": [ { "allele": "T", "end": 5803, "referenceAllele": "A", "start": 5802 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717888.4:c.5221A>T" ], "proteinEffect": { "hgvs": "XP_006717951.1:p.Ile1741Phe", "hgvsWellDefined": "XP_006717951.1:p.Ile1741Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS539504" }, { "coordinates": [ { "allele": "T", "end": 5758, "referenceAllele": "A", "start": 5757 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717889.4:c.5176A>T" ], "proteinEffect": { "hgvs": "XP_006717952.1:p.Ile1726Phe", "hgvsWellDefined": "XP_006717952.1:p.Ile1726Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS539505" }, { "coordinates": [ { "allele": "T", "end": 4322, "referenceAllele": "A", "start": 4321 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717890.3:c.4300A>T" ], "proteinEffect": { "hgvs": "XP_006717953.1:p.Ile1434Phe", "hgvsWellDefined": "XP_006717953.1:p.Ile1434Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS539506" }, { "coordinates": [ { "allele": "T", "end": 6963, "referenceAllele": "A", "start": 6962 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539849.3:c.5224A>T" ], "proteinEffect": { "hgvs": "XP_011538151.1:p.Ile1742Phe", "hgvsWellDefined": "XP_011538151.1:p.Ile1742Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS553823" }, { "coordinates": [ { "allele": "T", "end": 5451, "referenceAllele": "A", "start": 5450 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539850.3:c.4069A>T" ], "proteinEffect": { "hgvs": "XP_011538152.1:p.Ile1357Phe", "hgvsWellDefined": "XP_011538152.1:p.Ile1357Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS553824" }, { "coordinates": [ { "allele": "T", "end": 5853, "referenceAllele": "A", "start": 5852 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016310.2:c.5224A>T" ], "proteinEffect": { "hgvs": "XP_016871799.1:p.Ile1742Phe", "hgvsWellDefined": "XP_016871799.1:p.Ile1742Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS568781" }, { "coordinates": [ { "allele": "T", "end": 5806, "referenceAllele": "A", "start": 5805 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016311.2:c.5224A>T" ], "proteinEffect": { "hgvs": "XP_016871800.1:p.Ile1742Phe", "hgvsWellDefined": "XP_016871800.1:p.Ile1742Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS568782" }, { "coordinates": [ { "allele": "T", "end": 4232, "referenceAllele": "A", "start": 4231 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016312.2:c.4210A>T" ], "proteinEffect": { "hgvs": "XP_016871801.1:p.Ile1404Phe", "hgvsWellDefined": "XP_016871801.1:p.Ile1404Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS568783" }, { "coordinates": [ { "allele": "T", "end": 5826, "referenceAllele": "A", "start": 5825 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001288989.2:c.5134A>T" ], "proteinEffect": { "hgvs": "NP_001275918.1:p.Ile1712Phe", "hgvsWellDefined": "NP_001275918.1:p.Ile1712Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS682560" }, { "coordinates": [ { "allele": "T", "end": 5874, "referenceAllele": "A", "start": 5873 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_016341.4:c.5182A>T" ], "proteinEffect": { "hgvs": "NP_057425.3:p.Ile1728Phe", "hgvsWellDefined": "NP_057425.3:p.Ile1728Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS697711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371380.8:c.5182A>T" }, "RefSeq": { "hgvs": "NM_016341.4:c.5182A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360431.2:p.Ile1728Phe" }, "RefSeq": { "hgvs": "NP_057425.3:p.Ile1728Phe" } } } } ], "type": "nucleotide" }