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"gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.4361C>G" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Ser1454Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.4361C>G" }, "RefSeq": { "hgvs": "NM_022455.5:c.4361C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Ser1454Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Ser1454Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 3778, "referenceAllele": "C", "start": 3777 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.3554C>G" ], "proteinEffect": { "hgvs": "NP_758859.1:p.Ser1185Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729552" } ], "type": "nucleotide" }