{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1525801662", "communityStandardTitle": [ "NM_002454.3(MTRR):c.524C= (p.Ser175=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1532268", "rs": 1532268 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 7878066, "referenceAllele": "C", "start": 7878065 } ], "hgvs": [ "NC_000005.10:g.7878066C=", "CM000667.2:g.7878066C=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 7878179, "referenceAllele": "C", "start": 7878178 } ], "hgvs": [ "NC_000005.9:g.7878179C=", "CM000667.1:g.7878179C=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "C", "end": 7931179, "referenceAllele": "C", "start": 7931178 } ], "hgvs": [ "NC_000005.8:g.7931179C=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "C", "end": 13963, "referenceAllele": "C", "start": 13962 } ], "hgvs": [ "NG_008856.1:g.13963C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001253" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000440940.7:c.524C=" ], "proteinEffect": { "hgvs": "ENSP00000402510.2:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS755818", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440940.7:c.524C=" }, "RefSeq": { "hgvs": "NM_002454.3:c.524C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402510.2:p.Ser175=" }, "RefSeq": { "hgvs": "NP_002445.2:p.Ser175=" } } } }, { "coordinates": [ { "allele": "C", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000264668.6:c.605C=" ], "proteinEffect": { "hgvs": "ENSP00000264668.2:p.Ser202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS251553" }, { "coordinates": [ { "allele": "C", "end": 576, "referenceAllele": "C", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000440940.6:c.524C=" ], "proteinEffect": { "hgvs": "ENSP00000402510.2:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS296138" }, { "coordinates": [ { "allele": "C", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000508890.1:n.337C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS339798" }, { "coordinates": [ { "allele": "C", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000510279.5:c.*193C=" ], "proteinEffect": { "hgvs": "ENSP00000427200.1:n.*193C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS340831" }, { "coordinates": [ { "allele": "C", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000510525.5:c.549C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS341007" }, { "coordinates": [ { "allele": "C", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000511461.5:c.437C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS341723" }, { "coordinates": [ { "allele": "C", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000513439.5:c.*231C=" ], "proteinEffect": { "hgvs": "ENSP00000426710.1:n.*231C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS343181" }, { "coordinates": [ { "allele": "C", "end": 309, "referenceAllele": "C", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000514220.5:c.309C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS343763" }, { "coordinates": [ { "allele": "C", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "ENST00000514369.5:c.*188C=" ], "proteinEffect": { "hgvs": "ENSP00000426132.1:n.*188C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS343870" }, { "@id": "http://reg.genome.network/allele/PA2829385651", "coordinates": [ { "allele": "C", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_002454.2:c.524C=" ], "proteinEffect": { "hgvs": "NP_002445.2:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS027758" }, { "coordinates": [ { "allele": "C", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_024010.2:c.605C=" ], "proteinEffect": { "hgvs": "NP_076915.2:p.Ser202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS037605" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XM_006714474.2:c.605C=" ], "proteinEffect": { "hgvs": "XP_006714537.1:p.Ser202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS070677" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XM_011514043.1:c.605C=" ], "proteinEffect": { "hgvs": "XP_011512345.1:p.Ser202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS081269" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "C", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XM_011514044.1:c.524C=" ], "proteinEffect": { "hgvs": "XP_011512346.1:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS081270" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XM_011514045.1:c.605C=" ], "proteinEffect": { "hgvs": "XP_011512347.1:p.Ser202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS081271" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XR_241702.1:n.627C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS116107" }, { "coordinates": [ { "allele": "C", "end": 620, "referenceAllele": "C", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XR_241703.1:n.620C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS116108" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XR_925614.1:n.627C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS122428" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XR_925615.1:n.627C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS122429" }, { "@id": "http://reg.genome.network/allele/PA2828148064", "coordinates": [ { "allele": "C", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_001364440.1:c.524C=" ], "proteinEffect": { "hgvs": "NP_001351369.1:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS523848" }, { "@id": "http://reg.genome.network/allele/PA2828148577", "coordinates": [ { "allele": "C", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_001364441.1:c.524C=" ], "proteinEffect": { "hgvs": "NP_001351370.1:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS523849" }, { "@id": "http://reg.genome.network/allele/PA2828149091", "coordinates": [ { "allele": "C", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_001364442.1:c.524C=" ], "proteinEffect": { "hgvs": "NP_001351371.1:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS523850" }, { "@id": "http://reg.genome.network/allele/PA2830020867", "coordinates": [ { "allele": "C", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_024010.3:c.524C=" ], "proteinEffect": { "hgvs": "NP_076915.3:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS526127" }, { "coordinates": [ { "allele": "C", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_134480.1:n.647C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS527601" }, { "coordinates": [ { "allele": "C", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_134481.1:n.661C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS527602" }, { "coordinates": [ { "allele": "C", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_134482.1:n.507C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS527603" }, { "coordinates": [ { "allele": "C", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157168.1:n.577C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531980" }, { "coordinates": [ { "allele": "C", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157169.1:n.437C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531981" }, { "coordinates": [ { "allele": "C", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157170.1:n.463C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531982" }, { "coordinates": [ { "allele": "C", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157171.1:n.437C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531983" }, { "coordinates": [ { "allele": "C", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157172.1:n.463C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531984" }, { "coordinates": [ { "allele": "C", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157173.1:n.591C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531985" }, { "coordinates": [ { "allele": "C", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157174.1:n.463C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531986" }, { "coordinates": [ { "allele": "C", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157175.1:n.617C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531987" }, { "coordinates": [ { "allele": "C", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157176.1:n.617C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531988" }, { "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157177.1:n.612C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531989" }, { "coordinates": [ { "allele": "C", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157178.1:n.617C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS531990" }, { "coordinates": [ { "allele": "C", "end": 1319, "referenceAllele": "C", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XM_024446063.1:c.569C=" ], "proteinEffect": { "hgvs": "XP_024301831.1:p.Ser190=" }, "referenceSequence": "http://reg.genome.network/refseq/RS579747" }, { "coordinates": [ { "allele": "C", "end": 1162, "referenceAllele": "C", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XM_024446064.1:c.524C=" ], "proteinEffect": { "hgvs": "XP_024301832.1:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS579748" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XR_001742071.1:n.627C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS591937" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XR_001742072.1:n.627C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS591938" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XR_001742074.1:n.627C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS591939" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XR_001742075.1:n.627C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS591940" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XR_001742076.1:n.627C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS591941" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "XR_001742077.1:n.627C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS591942" }, { "@id": "http://reg.genome.network/allele/PA2828148064", "coordinates": [ { "allele": "C", "end": 1458, "referenceAllele": "C", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_001364440.2:c.524C=" ], "proteinEffect": { "hgvs": "NP_001351369.1:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690902" }, { "@id": "http://reg.genome.network/allele/PA2828148577", "coordinates": [ { "allele": "C", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_001364441.2:c.524C=" ], "proteinEffect": { "hgvs": "NP_001351370.1:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690903" }, { "@id": "http://reg.genome.network/allele/PA2828149091", "coordinates": [ { "allele": "C", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_001364442.2:c.524C=" ], "proteinEffect": { "hgvs": "NP_001351371.1:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690904" }, { "@id": "http://reg.genome.network/allele/PA2829385651", "coordinates": [ { "allele": "C", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_002454.3:c.524C=" ], "proteinEffect": { "hgvs": "NP_002445.2:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS695548", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440940.7:c.524C=" }, "RefSeq": { "hgvs": "NM_002454.3:c.524C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000402510.2:p.Ser175=" }, "RefSeq": { "hgvs": "NP_002445.2:p.Ser175=" } } } }, { "@id": "http://reg.genome.network/allele/PA2830020867", "coordinates": [ { "allele": "C", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NM_024010.4:c.524C=" ], "proteinEffect": { "hgvs": "NP_076915.3:p.Ser175=" }, "referenceSequence": "http://reg.genome.network/refseq/RS698639" }, { "coordinates": [ { "allele": "C", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_134480.2:n.603C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS703469" }, { "coordinates": [ { "allele": "C", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_134481.2:n.617C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS703470" }, { "coordinates": [ { "allele": "C", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_134482.2:n.463C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS703471" }, { "coordinates": [ { "allele": "C", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157168.2:n.577C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS704998" }, { "coordinates": [ { "allele": "C", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157169.2:n.437C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS704999" }, { "coordinates": [ { "allele": "C", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157170.2:n.463C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS705000" }, { "coordinates": [ { "allele": "C", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157171.2:n.437C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS705001" }, { "coordinates": [ { "allele": "C", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157172.2:n.463C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS705002" }, { "coordinates": [ { "allele": "C", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157173.2:n.591C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS705003" }, { "coordinates": [ { "allele": "C", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157174.2:n.463C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS705004" }, { "coordinates": [ { "allele": "C", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157175.2:n.617C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS705005" }, { "coordinates": [ { "allele": "C", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157176.2:n.617C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS705006" }, { "coordinates": [ { "allele": "C", "end": 612, "referenceAllele": "C", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157177.2:n.612C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS705007" }, { "coordinates": [ { "allele": "C", "end": 617, "referenceAllele": "C", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN007473", "geneNCBI_id": 4552, "geneSymbol": "MTRR", "hgvs": [ "NR_157178.2:n.617C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS705008" } ], "type": "nucleotide" }