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"referenceAllele": "C", "start": 227056061 } ], "hgvs": [ "NC_000002.12:g.227056062C>A", "CM000664.2:g.227056062C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 227920778, "referenceAllele": "C", "start": 227920777 } ], "hgvs": [ "NC_000002.11:g.227920778C>A", "CM000664.1:g.227920778C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 227629022, "referenceAllele": "C", "start": 227629021 } ], "hgvs": [ "NC_000002.10:g.227629022C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "T", "end": 113498, "referenceAllele": "G", "start": 113497 } ], "hgvs": [ "NG_011592.1:g.113498G>T", "LRG_231:g.113498G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001840" } ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS277360" }, { "@id": "http://reg.genome.network/allele/PA1139697393", "coordinates": [ { "allele": "T", "end": 3253, "referenceAllele": "G", "start": 3252 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "NM_000092.4:c.2599G>T", "LRG_231t1:c.2599G>T" ], "proteinEffect": { "hgvs": "NP_000083.3:p.Gly867Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006156" }, { "coordinates": [ { "allele": "T", "end": 2784, "referenceAllele": "G", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246281.2:c.2599G>T" ], "proteinEffect": { "hgvs": "XP_005246338.1:p.Gly867Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057551" }, { "coordinates": [ { "allele": "T", "end": 2354, "referenceAllele": "G", "start": 2353 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246282.2:c.2044G>T" ], "proteinEffect": { "hgvs": "XP_005246339.1:p.Gly682Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS057552" }, { "coordinates": [ { "allele": "T", "end": 2909, "referenceAllele": "G", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712246.2:c.2599G>T" ], "proteinEffect": { "hgvs": "XP_006712309.1:p.Gly867Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069541" }, { "coordinates": [ { "allele": "T", "end": 2909, "referenceAllele": "G", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712249.2:c.2599G>T" ], "proteinEffect": { "hgvs": "XP_006712312.1:p.Gly867Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069542" }, { "coordinates": [ { "allele": "T", "end": 2909, "referenceAllele": "G", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712251.2:c.2599G>T" ], "proteinEffect": { "hgvs": "XP_006712314.1:p.Gly867Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069543" }, { "coordinates": [ { "allele": "T", "end": 2909, "referenceAllele": "G", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712252.2:c.2599G>T" ], "proteinEffect": { "hgvs": "XP_006712315.1:p.Gly867Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS069544" }, { "coordinates": [ { "allele": "T", "end": 2909, "referenceAllele": "G", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510557.1:c.2599G>T" ], "proteinEffect": { "hgvs": "XP_011508859.1:p.Gly867Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS077820" }, { "coordinates": [ { "allele": "T", "end": 2801, "referenceAllele": "G", "start": 2800 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510558.1:c.2491G>T" ], "proteinEffect": { "hgvs": "XP_011508860.1:p.Gly831Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS559071" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "G", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738602.1:n.2925G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589091" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "G", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738603.1:n.2925G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589092" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "G", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738604.1:n.2925G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589093" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "G", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738606.1:n.2925G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589094" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "G", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738607.1:n.2925G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589095" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "G", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922837.2:n.2925G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS607167" }, { "@id": "http://reg.genome.network/allele/PA1139697393", "coordinates": [ { "allele": "T", "end": 2899, "referenceAllele": "G", "start": 2898 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "NM_000092.5:c.2599G>T" ], "proteinEffect": { "hgvs": "NP_000083.3:p.Gly867Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS674699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396625.5:c.2599G>T" }, "RefSeq": { "hgvs": "NM_000092.5:c.2599G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379866.3:p.Gly867Ter" }, "RefSeq": { "hgvs": "NP_000083.3:p.Gly867Ter" } } } } ], "type": "nucleotide" }