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}, "referenceSequence": "http://reg.genome.network/refseq/RS578838" }, { "coordinates": [ { "allele": "T", "end": 145, "referenceAllele": "G", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "XM_017029263.2:c.-635G>T" ], "proteinEffect": { "hgvs": "XP_016884752.1:n.-635G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS578839" }, { "coordinates": [ { "allele": "T", "end": 1363, "referenceAllele": "G", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_000495.5:c.1075G>T" ], "proteinEffect": { "hgvs": "NP_000486.1:p.Gly359Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674868" }, { "coordinates": [ { "allele": "T", "end": 1363, "referenceAllele": "G", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN002207", "geneNCBI_id": 1287, "geneSymbol": "COL4A5", "hgvs": [ "NM_033380.3:c.1075G>T" ], "proteinEffect": { "hgvs": "NP_203699.1:p.Gly359Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS699344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000328300.11:c.1075G>T" }, "RefSeq": { "hgvs": "NM_033380.3:c.1075G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331902.7:p.Gly359Ter" }, "RefSeq": { "hgvs": "NP_203699.1:p.Gly359Ter" } } } } ], "type": "nucleotide" }