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"ENST00000681859.1:c.1738G>T" ], "proteinEffect": { "hgvs": "ENSP00000505467.1:p.Glu580Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS781461" }, { "coordinates": [ { "allele": "T", "end": 1902, "referenceAllele": "G", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN002961", "geneNCBI_id": 1778, "geneSymbol": "DYNC1H1", "hgvs": [ "ENST00000360184.8:c.1738G>T" ], "proteinEffect": { "hgvs": "ENSP00000348965.4:p.Glu580Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS265041" }, { "coordinates": [ { "allele": "T", "end": 1902, "referenceAllele": "G", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN002961", "geneNCBI_id": 1778, "geneSymbol": "DYNC1H1", "hgvs": [ "NM_001376.4:c.1738G>T" ], "proteinEffect": { "hgvs": "NP_001367.2:p.Glu580Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS026762" }, { "coordinates": [ { "allele": "T", "end": 1857, "referenceAllele": "G", "start": 1856 } ], "gene": "http://reg.genome.network/gene/GN002961", "geneNCBI_id": 1778, "geneSymbol": "DYNC1H1", "hgvs": [ "NM_001376.5:c.1738G>T" ], "proteinEffect": { "hgvs": "NP_001367.2:p.Glu580Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS664958", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000360184.10:c.1738G>T" }, "RefSeq": { "hgvs": "NM_001376.5:c.1738G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348965.4:p.Glu580Ter" }, "RefSeq": { "hgvs": "NP_001367.2:p.Glu580Ter" } } } } ], "type": "nucleotide" }