{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2153455", "communityStandardTitle": [ "NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1333025[alleleid]", "alleleId": 1333025, "preferredName": "NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1341777", "RCV": [ "RCV001837257", "RCV002542800", "RCV003434329" ], "variationId": 1341777 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-230723767-C-T", "id": "2-230723767-C-T", "variant": "2:230723767 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.230723767C>T?assembly=hg19", "id": "chr2:g.230723767C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.229859051C>T?assembly=hg38", "id": "chr2:g.229859051C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/539119124", "rs": 539119124 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-230723767-C-T?dataset=gnomad_r2_1", "id": "2-230723767-C-T", "variant": "2:230723767 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-229859051-C-T?dataset=gnomad_r3", "id": "2-229859051-C-T", "variant": "2:229859051 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-229859051-C-T?dataset=gnomad_r4", "id": "2-229859051-C-T", "variant": "2:229859051 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 229859051, "referenceAllele": "C", "start": 229859050 } ], "hgvs": [ "NC_000002.12:g.229859051C>T", "CM000664.2:g.229859051C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 230723767, "referenceAllele": "C", "start": 230723766 } ], "hgvs": [ "NC_000002.11:g.230723767C>T", "CM000664.1:g.230723767C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 230432011, "referenceAllele": "C", "start": 230432010 } ], "hgvs": [ "NC_000002.10:g.230432011C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 69184, "referenceAllele": "G", "start": 69183 } ], "hgvs": [ "NG_053017.1:g.69184G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617324" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 976, "referenceAllele": "G", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000430954.6:c.748G>A" ], "proteinEffect": { "hgvs": "ENSP00000389827.2:p.Ala250Thr", "hgvsWellDefined": "ENSP00000389827.2:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS904836" }, { "coordinates": [ { "allele": "A", "end": 797, "referenceAllele": "G", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000453485.2:c.748G>A" ], "proteinEffect": { "hgvs": "ENSP00000400967.2:p.Ala250Thr", "hgvsWellDefined": "ENSP00000400967.2:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS905023" }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000704577.1:c.748G>A" ], "proteinEffect": { "hgvs": "ENSP00000515952.1:p.Ala250Thr", "hgvsWellDefined": "ENSP00000515952.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS912358" }, { "coordinates": [ { "allele": "A", "end": 688, "referenceAllele": "G", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000704578.1:c.622G>A" ], "proteinEffect": { "hgvs": "ENSP00000515953.1:p.Ala208Thr", "hgvsWellDefined": "ENSP00000515953.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS912359" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000704579.1:c.748G>A" ], "proteinEffect": { "hgvs": "ENSP00000515954.1:p.Ala250Thr", "hgvsWellDefined": "ENSP00000515954.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS912360" }, { "coordinates": [ { "allele": "A", "end": 780, "referenceAllele": "G", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000704580.1:c.622G>A" ], "proteinEffect": { "hgvs": "ENSP00000515955.1:p.Ala208Thr", "hgvsWellDefined": "ENSP00000515955.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS912361" }, { "coordinates": [ { "allele": "A", "end": 797, "referenceAllele": "G", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000704581.1:c.748G>A" ], "proteinEffect": { "hgvs": "ENSP00000515956.1:p.Ala250Thr", "hgvsWellDefined": "ENSP00000515956.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS912362" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000704583.1:c.748G>A" ], "proteinEffect": { "hgvs": "ENSP00000515958.1:p.Ala250Thr", "hgvsWellDefined": "ENSP00000515958.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS912364" }, { "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "G", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000704584.1:c.471G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS912365" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000704585.1:c.622G>A" ], "proteinEffect": { "hgvs": "ENSP00000515960.1:p.Ala208Thr", "hgvsWellDefined": "ENSP00000515960.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS912366" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "G", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000704586.1:n.913G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS912367" }, { "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "G", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000675423.1:c.748G>A" ], "proteinEffect": { "hgvs": "ENSP00000502768.1:p.Ala250Thr", "hgvsWellDefined": "ENSP00000502768.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS775248" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000675453.1:c.748G>A" ], "proteinEffect": { "hgvs": "ENSP00000502271.1:p.Ala250Thr", "hgvsWellDefined": "ENSP00000502271.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS775273" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000675903.1:c.748G>A" ], "proteinEffect": { "hgvs": "ENSP00000502713.1:p.Ala250Thr", "hgvsWellDefined": "ENSP00000502713.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS775663", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675903.1:c.748G>A" }, "RefSeq": { "hgvs": "NM_001348323.3:c.748G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502713.1:p.Ala250Thr" }, "RefSeq": { "hgvs": "NP_001335252.1:p.Ala250Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000283943.9:c.622G>A" ], "proteinEffect": { "hgvs": "ENSP00000283943.4:p.Ala208Thr", "hgvsWellDefined": "ENSP00000283943.4:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS253191" }, { "coordinates": [ { "allele": "A", "end": 917, "referenceAllele": "G", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000389044.8:c.748G>A" ], "proteinEffect": { "hgvs": "ENSP00000373696.4:p.Ala250Thr", "hgvsWellDefined": "ENSP00000373696.4:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS274134" }, { "coordinates": [ { "allele": "A", "end": 171, "endIntronDirection": "+", "endIntronOffset": 20931, "referenceAllele": "G", "start": 171, "startIntronDirection": "+", "startIntronOffset": 20930 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000389045.7:c.98+20931G>A" ], "proteinEffect": { "hgvs": "ENSP00000373697.3:n.98+20931G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS274135" }, { "coordinates": [ { "allele": "A", "end": 870, "referenceAllele": "G", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000409677.5:c.748G>A" ], "proteinEffect": { "hgvs": "ENSP00000386388.1:p.Ala250Thr", "hgvsWellDefined": "ENSP00000386388.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS281756" }, { "coordinates": [ { "allele": "A", "end": 232, "referenceAllele": "G", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000453485.1:c.232G>A" ], "proteinEffect": { "hgvs": "ENSP00000400967.1:p.Ala78Thr", "hgvsWellDefined": "ENSP00000400967.1:p.Ala78Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS302140" }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "ENST00000479037.5:n.801G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319506" }, { "@id": "http://reg.genome.network/allele/PA2826685485", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001284214.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001271143.1:p.Ala250Thr", "hgvsWellDefined": "NP_001271143.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS022482" }, { "@id": "http://reg.genome.network/allele/PA2826685746", "coordinates": [ { "allele": "A", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001284215.1:c.622G>A" ], "proteinEffect": { "hgvs": "NP_001271144.1:p.Ala208Thr", "hgvsWellDefined": "NP_001271144.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS022483" }, { "coordinates": [ { "allele": "A", "end": 277, "endIntronDirection": "+", "endIntronOffset": 20931, "referenceAllele": "G", "start": 277, "startIntronDirection": "+", "startIntronOffset": 20930 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001284216.1:c.98+20931G>A" ], "proteinEffect": { "hgvs": "NP_001271145.1:n.98+20931G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS022484" }, { "@id": "http://reg.genome.network/allele/PA2829488137", "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_004238.2:c.622G>A" ], "proteinEffect": { "hgvs": "NP_004229.1:p.Ala208Thr", "hgvsWellDefined": "NP_004229.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS029412" }, { "coordinates": [ { "allele": "A", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_005246954.3:c.748G>A" ], "proteinEffect": { "hgvs": "XP_005247011.1:p.Ala250Thr", "hgvsWellDefined": "XP_005247011.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS057857" }, { "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "G", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_005246955.3:c.748G>A" ], "proteinEffect": { "hgvs": "XP_005247012.1:p.Ala250Thr", "hgvsWellDefined": "XP_005247012.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS057858" }, { "coordinates": [ { "allele": "A", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_005246956.3:c.748G>A" ], "proteinEffect": { "hgvs": "XP_005247013.1:p.Ala250Thr", "hgvsWellDefined": "XP_005247013.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS057859" }, { "coordinates": [ { "allele": "A", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_005246957.3:c.748G>A" ], "proteinEffect": { "hgvs": "XP_005247014.1:p.Ala250Thr", "hgvsWellDefined": "XP_005247014.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS057860" }, { "coordinates": [ { "allele": "A", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_005246958.3:c.748G>A" ], "proteinEffect": { "hgvs": "XP_005247015.1:p.Ala250Thr", "hgvsWellDefined": "XP_005247015.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS057861" }, { "coordinates": [ { "allele": "A", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_005246960.3:c.748G>A" ], "proteinEffect": { "hgvs": "XP_005247017.1:p.Ala250Thr", "hgvsWellDefined": "XP_005247017.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS057862" }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_005246961.2:c.622G>A" ], "proteinEffect": { "hgvs": "XP_005247018.1:p.Ala208Thr", "hgvsWellDefined": "XP_005247018.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS057863" }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_005246962.3:c.622G>A" ], "proteinEffect": { "hgvs": "XP_005247019.1:p.Ala208Thr", "hgvsWellDefined": "XP_005247019.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS057864" }, { "coordinates": [ { "allele": "A", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_005246963.3:c.748G>A" ], "proteinEffect": { "hgvs": "XP_005247020.1:p.Ala250Thr", "hgvsWellDefined": "XP_005247020.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS057865" }, { "coordinates": [ { "allele": "A", "end": 754, "referenceAllele": "G", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_006712852.2:c.622G>A" ], "proteinEffect": { "hgvs": "XP_006712915.1:p.Ala208Thr", "hgvsWellDefined": "XP_006712915.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069875" }, { "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_006712853.2:c.622G>A" ], "proteinEffect": { "hgvs": "XP_006712916.1:p.Ala208Thr", "hgvsWellDefined": "XP_006712916.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS069876" }, { "coordinates": [ { "allele": "A", "end": 821, "referenceAllele": "G", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_011512180.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_011510482.1:p.Ala250Thr", "hgvsWellDefined": "XP_011510482.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS079438" }, { "coordinates": [ { "allele": "A", "end": 821, "referenceAllele": "G", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_011512181.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_011510483.1:p.Ala250Thr", "hgvsWellDefined": "XP_011510483.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS079439" }, { "coordinates": [ { "allele": "A", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_011512182.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_011510484.1:p.Ala250Thr", "hgvsWellDefined": "XP_011510484.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS079440" }, { "coordinates": [ { "allele": "A", "end": 758, "referenceAllele": "G", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_011512183.1:c.622G>A" ], "proteinEffect": { "hgvs": "XP_011510485.1:p.Ala208Thr", "hgvsWellDefined": "XP_011510485.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS079441" }, { "coordinates": [ { "allele": "A", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_011512184.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_011510486.1:p.Ala250Thr", "hgvsWellDefined": "XP_011510486.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS079442" }, { "@id": "http://reg.genome.network/allele/PA2826685746", "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001284215.2:c.622G>A" ], "proteinEffect": { "hgvs": "NP_001271144.1:p.Ala208Thr", "hgvsWellDefined": "NP_001271144.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS512156" }, { "@id": "http://reg.genome.network/allele/PA2827437452", "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348315.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335244.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335244.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518137" }, { "@id": "http://reg.genome.network/allele/PA2827437720", "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "G", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348316.1:c.622G>A" ], "proteinEffect": { "hgvs": "NP_001335245.1:p.Ala208Thr", "hgvsWellDefined": "NP_001335245.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518138" }, { "@id": "http://reg.genome.network/allele/PA2827437988", "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348317.1:c.622G>A" ], "proteinEffect": { "hgvs": "NP_001335246.1:p.Ala208Thr", "hgvsWellDefined": "NP_001335246.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518139" }, { "@id": "http://reg.genome.network/allele/PA2827438256", "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "G", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348318.1:c.622G>A" ], "proteinEffect": { "hgvs": "NP_001335247.1:p.Ala208Thr", "hgvsWellDefined": "NP_001335247.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518140" }, { "@id": "http://reg.genome.network/allele/PA2827438526", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348319.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335248.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335248.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518141" }, { "@id": "http://reg.genome.network/allele/PA2827438796", "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348320.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335249.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335249.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518142" }, { "@id": "http://reg.genome.network/allele/PA2827439066", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348321.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335250.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335250.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518143" }, { "@id": "http://reg.genome.network/allele/PA2827439336", "coordinates": [ { "allele": "A", "end": 1045, "referenceAllele": "G", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348322.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335251.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335251.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518144" }, { "@id": "http://reg.genome.network/allele/PA2827439606", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348323.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335252.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335252.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518145" }, { "@id": "http://reg.genome.network/allele/PA2827439876", "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "G", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348324.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335253.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335253.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518146" }, { "@id": "http://reg.genome.network/allele/PA2827440146", "coordinates": [ { "allele": "A", "end": 1037, "referenceAllele": "G", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348325.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335254.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335254.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518147" }, { "@id": "http://reg.genome.network/allele/PA2827440416", "coordinates": [ { "allele": "A", "end": 912, "referenceAllele": "G", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348326.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335255.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335255.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518148" }, { "@id": "http://reg.genome.network/allele/PA2827440686", "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348327.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335256.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335256.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518149" }, { "@id": "http://reg.genome.network/allele/PA2827440955", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348328.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335257.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335257.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518150" }, { "@id": "http://reg.genome.network/allele/PA2827441225", "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "G", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348329.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335258.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335258.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518151" }, { "@id": "http://reg.genome.network/allele/PA2827441495", "coordinates": [ { "allele": "A", "end": 915, "referenceAllele": "G", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348330.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335259.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335259.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518152" }, { "@id": "http://reg.genome.network/allele/PA2827441684", "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348331.1:c.622G>A" ], "proteinEffect": { "hgvs": "NP_001335260.1:p.Ala208Thr", "hgvsWellDefined": "NP_001335260.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518153" }, { "@id": "http://reg.genome.network/allele/PA2827441952", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348332.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335261.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335261.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518154" }, { "@id": "http://reg.genome.network/allele/PA2827442216", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348333.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335262.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335262.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518155" }, { "@id": "http://reg.genome.network/allele/PA2827442442", "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "G", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348334.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335263.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335263.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518156" }, { "@id": "http://reg.genome.network/allele/PA2827442517", "coordinates": [ { "allele": "A", "end": 830, "referenceAllele": "G", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348335.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335264.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335264.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518157" }, { "@id": "http://reg.genome.network/allele/PA2573070853", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348336.1:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335265.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335265.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS518158" }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_005246961.4:c.622G>A" ], "proteinEffect": { "hgvs": "XP_005247018.1:p.Ala208Thr", "hgvsWellDefined": "XP_005247018.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS532733" }, { "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_017005283.2:c.748G>A" ], "proteinEffect": { "hgvs": "XP_016860772.1:p.Ala250Thr", "hgvsWellDefined": "XP_016860772.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS560591" }, { "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_017005289.2:c.748G>A" ], "proteinEffect": { "hgvs": "XP_016860778.1:p.Ala250Thr", "hgvsWellDefined": "XP_016860778.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS560592" }, { "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_017005290.2:c.748G>A" ], "proteinEffect": { "hgvs": "XP_016860779.1:p.Ala250Thr", "hgvsWellDefined": "XP_016860779.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS560593" }, { "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453223.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024308991.1:p.Ala250Thr", "hgvsWellDefined": "XP_024308991.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586609" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453224.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024308992.1:p.Ala250Thr", "hgvsWellDefined": "XP_024308992.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586610" }, { "coordinates": [ { "allele": "A", "end": 879, "referenceAllele": "G", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453225.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024308993.1:p.Ala250Thr", "hgvsWellDefined": "XP_024308993.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586611" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "G", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453226.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024308994.1:p.Ala250Thr", "hgvsWellDefined": "XP_024308994.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586612" }, { "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "G", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453227.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024308995.1:p.Ala250Thr", "hgvsWellDefined": "XP_024308995.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586613" }, { "coordinates": [ { "allele": "A", "end": 825, "referenceAllele": "G", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453228.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024308996.1:p.Ala250Thr", "hgvsWellDefined": "XP_024308996.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586614" }, { "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453229.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024308997.1:p.Ala250Thr", "hgvsWellDefined": "XP_024308997.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586615" }, { "coordinates": [ { "allele": "A", "end": 888, "referenceAllele": "G", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453230.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024308998.1:p.Ala250Thr", "hgvsWellDefined": "XP_024308998.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586616" }, { "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453231.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024308999.1:p.Ala250Thr", "hgvsWellDefined": "XP_024308999.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586617" }, { "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453232.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024309000.1:p.Ala250Thr", "hgvsWellDefined": "XP_024309000.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586618" }, { "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453233.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024309001.1:p.Ala250Thr", "hgvsWellDefined": "XP_024309001.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586619" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453234.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024309002.1:p.Ala250Thr", "hgvsWellDefined": "XP_024309002.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586620" }, { "coordinates": [ { "allele": "A", "end": 817, "referenceAllele": "G", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453235.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_024309003.1:p.Ala250Thr", "hgvsWellDefined": "XP_024309003.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586621" }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453236.1:c.622G>A" ], "proteinEffect": { "hgvs": "XP_024309004.1:p.Ala208Thr", "hgvsWellDefined": "XP_024309004.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586622" }, { "coordinates": [ { "allele": "A", "end": 754, "referenceAllele": "G", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453237.1:c.622G>A" ], "proteinEffect": { "hgvs": "XP_024309005.1:p.Ala208Thr", "hgvsWellDefined": "XP_024309005.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586623" }, { "coordinates": [ { "allele": "A", "end": 850, "referenceAllele": "G", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453238.1:c.622G>A" ], "proteinEffect": { "hgvs": "XP_024309006.1:p.Ala208Thr", "hgvsWellDefined": "XP_024309006.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586624" }, { "coordinates": [ { "allele": "A", "end": 758, "referenceAllele": "G", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453239.1:c.622G>A" ], "proteinEffect": { "hgvs": "XP_024309007.1:p.Ala208Thr", "hgvsWellDefined": "XP_024309007.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586625" }, { "coordinates": [ { "allele": "A", "end": 788, "referenceAllele": "G", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453240.1:c.622G>A" ], "proteinEffect": { "hgvs": "XP_024309008.1:p.Ala208Thr", "hgvsWellDefined": "XP_024309008.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586626" }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453241.1:c.622G>A" ], "proteinEffect": { "hgvs": "XP_024309009.1:p.Ala208Thr", "hgvsWellDefined": "XP_024309009.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586627" }, { "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453242.1:c.622G>A" ], "proteinEffect": { "hgvs": "XP_024309010.1:p.Ala208Thr", "hgvsWellDefined": "XP_024309010.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586628" }, { "coordinates": [ { "allele": "A", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "XM_024453243.1:c.622G>A" ], "proteinEffect": { "hgvs": "XP_024309011.1:p.Ala208Thr", "hgvsWellDefined": "XP_024309011.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586629" }, { "@id": "http://reg.genome.network/allele/PA2826685485", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001284214.2:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001271143.1:p.Ala250Thr", "hgvsWellDefined": "NP_001271143.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS682012" }, { "coordinates": [ { "allele": "A", "end": 277, "endIntronDirection": "+", "endIntronOffset": 20931, "referenceAllele": "G", "start": 277, "startIntronDirection": "+", "startIntronOffset": 20930 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001284216.2:c.98+20931G>A" ], "proteinEffect": { "hgvs": "NP_001271145.1:n.98+20931G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682013" }, { "@id": "http://reg.genome.network/allele/PA2827437452", "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348315.2:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335244.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335244.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687630" }, { "@id": "http://reg.genome.network/allele/PA2827437720", "coordinates": [ { "allele": "A", "end": 897, "referenceAllele": "G", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348316.2:c.622G>A" ], "proteinEffect": { "hgvs": "NP_001335245.1:p.Ala208Thr", "hgvsWellDefined": "NP_001335245.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687631" }, { "@id": "http://reg.genome.network/allele/PA2827438256", "coordinates": [ { "allele": "A", "end": 1190, "referenceAllele": "G", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348318.2:c.622G>A" ], "proteinEffect": { "hgvs": "NP_001335247.1:p.Ala208Thr", "hgvsWellDefined": "NP_001335247.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687632" }, { "@id": "http://reg.genome.network/allele/PA2827438796", "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348320.2:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335249.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335249.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687633" }, { "@id": "http://reg.genome.network/allele/PA2827439606", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348323.2:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335252.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335252.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687634" }, { "@id": "http://reg.genome.network/allele/PA2827439876", "coordinates": [ { "allele": "A", "end": 1023, "referenceAllele": "G", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348324.2:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335253.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335253.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687635" }, { "@id": "http://reg.genome.network/allele/PA2827440146", "coordinates": [ { "allele": "A", "end": 1438, "referenceAllele": "G", "start": 1437 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348325.2:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335254.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335254.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687636" }, { "@id": "http://reg.genome.network/allele/PA2827440416", "coordinates": [ { "allele": "A", "end": 1313, "referenceAllele": "G", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348326.2:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335255.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335255.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687637" }, { "@id": "http://reg.genome.network/allele/PA2827440686", "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348327.2:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335256.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335256.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687638" }, { "@id": "http://reg.genome.network/allele/PA2827441225", "coordinates": [ { "allele": "A", "end": 1278, "referenceAllele": "G", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348329.2:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335258.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335258.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687639" }, { "@id": "http://reg.genome.network/allele/PA2827441495", "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348330.2:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335259.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335259.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS687640" }, { "@id": "http://reg.genome.network/allele/PA2829488137", "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_004238.3:c.622G>A" ], "proteinEffect": { "hgvs": "NP_004229.1:p.Ala208Thr", "hgvsWellDefined": "NP_004229.1:p.Ala208Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS696081" }, { "@id": "http://reg.genome.network/allele/PA2827439606", "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "G", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348323.3:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335252.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335252.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS719160", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675903.1:c.748G>A" }, "RefSeq": { "hgvs": "NM_001348323.3:c.748G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502713.1:p.Ala250Thr" }, "RefSeq": { "hgvs": "NP_001335252.1:p.Ala250Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2827442517", "coordinates": [ { "allele": "A", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN012306", "geneNCBI_id": 9320, "geneSymbol": "TRIP12", "hgvs": [ "NM_001348335.2:c.748G>A" ], "proteinEffect": { "hgvs": "NP_001335264.1:p.Ala250Thr", "hgvsWellDefined": "NP_001335264.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS719161" } ], "type": "nucleotide" }