{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1697407", "communityStandardTitle": [ "NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3695577", "active": true, "id": "COSM3695577" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=250766[alleleid]", "alleleId": 250766, "preferredName": "NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/261567", "RCV": [ "RCV000250393", "RCV000859341", "RCV000516506", "RCV003891965", "RCV003989508" ], "variationId": 261567 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-70439942-T-C", "id": "2-70439942-T-C", "variant": "2:70439942 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.70439942T>C?assembly=hg19", "id": "chr2:g.70439942T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.70212810T>C?assembly=hg38", "id": "chr2:g.70212810T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/116621885", "rs": 116621885 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-70439942-T-C?dataset=gnomad_r2_1", "id": "2-70439942-T-C", "variant": "2:70439942 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-70212810-T-C?dataset=gnomad_r3", "id": "2-70212810-T-C", "variant": "2:70212810 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-70212810-T-C?dataset=gnomad_r4", "id": "2-70212810-T-C", "variant": "2:70212810 T / C" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 70212810, "referenceAllele": "T", "start": 70212809 } ], "hgvs": [ "NC_000002.12:g.70212810T>C", "CM000664.2:g.70212810T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 70439942, "referenceAllele": "T", "start": 70439941 } ], "hgvs": [ "NC_000002.11:g.70439942T>C", "CM000664.1:g.70439942T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 70293446, "referenceAllele": "T", "start": 70293445 } ], "hgvs": [ "NC_000002.10:g.70293446T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "G", "end": 40838, "referenceAllele": "A", "start": 40837 } ], "hgvs": [ "NG_029967.1:g.40838A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS004819" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1268, "referenceAllele": "A", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "ENST00000433529.7:c.1070A>G" ], "proteinEffect": { "hgvs": "ENSP00000401371.2:p.Asn357Ser", "hgvsWellDefined": "ENSP00000401371.2:p.Asn357Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS755465", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000433529.7:c.1070A>G" }, "RefSeq": { "hgvs": "NM_022173.4:c.1070A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000401371.2:p.Asn357Ser" }, "RefSeq": { "hgvs": "NP_071505.2:p.Asn357Ser" } } } }, { "coordinates": [ { "allele": "G", "end": 1217, "referenceAllele": "A", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "ENST00000282574.8:c.1067A>G" ], "proteinEffect": { "hgvs": "ENSP00000282574.4:p.Asn356Ser", "hgvsWellDefined": "ENSP00000282574.4:p.Asn356Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS253100" }, { "coordinates": [ { "allele": "G", "end": 1267, "referenceAllele": "A", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "ENST00000415783.6:c.1037A>G" ], "proteinEffect": { "hgvs": "ENSP00000404023.2:p.Asn346Ser", "hgvsWellDefined": "ENSP00000404023.2:p.Asn346Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS284147" }, { "coordinates": [ { "allele": "G", "end": 1281, "referenceAllele": "A", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "ENST00000433529.6:c.1070A>G" ], "proteinEffect": { "hgvs": "ENSP00000401371.2:p.Asn357Ser", "hgvsWellDefined": "ENSP00000401371.2:p.Asn357Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS292586" }, { "coordinates": [ { "allele": "G", "end": 947, "referenceAllele": "A", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "ENST00000445587.5:c.767A>G" ], "proteinEffect": { "hgvs": "ENSP00000399567.1:p.Asn256Ser", "hgvsWellDefined": "ENSP00000399567.1:p.Asn256Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS298351" }, { "coordinates": [ { "allele": "G", "end": 211, "endIntronDirection": "-", "endIntronOffset": 30812, "referenceAllele": "A", "start": 211, "startIntronDirection": "-", "startIntronOffset": 30813 } ], "gene": "http://reg.genome.network/gene/GN026056", "geneNCBI_id": 54980, "geneSymbol": "C2orf42", "hgvs": [ "ENST00000470096.1:n.212-30813A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS312619" }, { "coordinates": [ { "allele": "G", "end": 380, "referenceAllele": "A", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "ENST00000486392.5:n.380A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS325206" }, { "coordinates": [ { "allele": "G", "end": 472, "referenceAllele": "A", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "ENST00000495774.1:n.472A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS332407" }, { "@id": "http://reg.genome.network/allele/PA2829992063", "coordinates": [ { "allele": "G", "end": 1254, "referenceAllele": "A", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_022037.2:c.1037A>G" ], "proteinEffect": { "hgvs": "NP_071320.2:p.Asn346Ser", "hgvsWellDefined": "NP_071320.2:p.Asn346Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS037146" }, { "@id": "http://reg.genome.network/allele/PA645382346", "coordinates": [ { "allele": "G", "end": 1287, "referenceAllele": "A", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_022173.2:c.1070A>G" ], "proteinEffect": { "hgvs": "NP_071505.2:p.Asn357Ser", "hgvsWellDefined": "NP_071505.2:p.Asn357Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS037265" }, { "coordinates": [ { "allele": "G", "end": 1261, "referenceAllele": "A", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_005264527.1:c.1034A>G" ], "proteinEffect": { "hgvs": "XP_005264584.1:p.Asn345Ser", "hgvsWellDefined": "XP_005264584.1:p.Asn345Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS064271" }, { "coordinates": [ { "allele": "G", "end": 1250, "referenceAllele": "A", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_005264528.3:c.875A>G" ], "proteinEffect": { "hgvs": "XP_005264585.1:p.Asn292Ser", "hgvsWellDefined": "XP_005264585.1:p.Asn292Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS064272" }, { "coordinates": [ { "allele": "G", "end": 1334, "referenceAllele": "A", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_005264531.1:c.767A>G" ], "proteinEffect": { "hgvs": "XP_005264588.1:p.Asn256Ser", "hgvsWellDefined": "XP_005264588.1:p.Asn256Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS064273" }, { "coordinates": [ { "allele": "G", "end": 1294, "referenceAllele": "A", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_011533077.1:c.1067A>G" ], "proteinEffect": { "hgvs": "XP_011531379.1:p.Asn356Ser", "hgvsWellDefined": "XP_011531379.1:p.Asn356Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100102" }, { "coordinates": [ { "allele": "G", "end": 4960, "referenceAllele": "A", "start": 4959 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_011533078.1:c.770A>G" ], "proteinEffect": { "hgvs": "XP_011531380.1:p.Asn257Ser", "hgvsWellDefined": "XP_011531380.1:p.Asn257Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100103" }, { "coordinates": [ { "allele": "G", "end": 2794, "referenceAllele": "A", "start": 2793 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_011533079.1:c.770A>G" ], "proteinEffect": { "hgvs": "XP_011531381.1:p.Asn257Ser", "hgvsWellDefined": "XP_011531381.1:p.Asn257Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100104" }, { "coordinates": [ { "allele": "G", "end": 2619, "referenceAllele": "A", "start": 2618 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_011533080.1:c.770A>G" ], "proteinEffect": { "hgvs": "XP_011531382.1:p.Asn257Ser", "hgvsWellDefined": "XP_011531382.1:p.Asn257Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100105" }, { "coordinates": [ { "allele": "G", "end": 2110, "referenceAllele": "A", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_011533081.1:c.770A>G" ], "proteinEffect": { "hgvs": "XP_011531383.1:p.Asn257Ser", "hgvsWellDefined": "XP_011531383.1:p.Asn257Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100106" }, { "coordinates": [ { "allele": "G", "end": 5276, "referenceAllele": "A", "start": 5275 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_011533082.1:c.770A>G" ], "proteinEffect": { "hgvs": "XP_011531384.1:p.Asn257Ser", "hgvsWellDefined": "XP_011531384.1:p.Asn257Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100107" }, { "coordinates": [ { "allele": "G", "end": 1921, "referenceAllele": "A", "start": 1920 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_011533083.1:c.650A>G" ], "proteinEffect": { "hgvs": "XP_011531385.1:p.Asn217Ser", "hgvsWellDefined": "XP_011531385.1:p.Asn217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS100108" }, { "coordinates": [ { "allele": "G", "end": 1427, "referenceAllele": "A", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XR_244955.1:n.1427A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS116866" }, { "coordinates": [ { "allele": "G", "end": 1406, "referenceAllele": "A", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XR_939714.1:n.1406A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS134410" }, { "@id": "http://reg.genome.network/allele/PA2827614337", "coordinates": [ { "allele": "G", "end": 1430, "referenceAllele": "A", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351508.1:c.1067A>G" ], "proteinEffect": { "hgvs": "NP_001338437.1:p.Asn356Ser", "hgvsWellDefined": "NP_001338437.1:p.Asn356Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520271" }, { "@id": "http://reg.genome.network/allele/PA2827614484", "coordinates": [ { "allele": "G", "end": 1406, "referenceAllele": "A", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351509.1:c.1043A>G" ], "proteinEffect": { "hgvs": "NP_001338438.1:p.Asn348Ser", "hgvsWellDefined": "NP_001338438.1:p.Asn348Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520272" }, { "@id": "http://reg.genome.network/allele/PA2827614630", "coordinates": [ { "allele": "G", "end": 1397, "referenceAllele": "A", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351510.1:c.1034A>G" ], "proteinEffect": { "hgvs": "NP_001338439.1:p.Asn345Ser", "hgvsWellDefined": "NP_001338439.1:p.Asn345Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520273" }, { "@id": "http://reg.genome.network/allele/PA2827614759", "coordinates": [ { "allele": "G", "end": 1175, "referenceAllele": "A", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351511.1:c.959A>G" ], "proteinEffect": { "hgvs": "NP_001338440.1:p.Asn320Ser", "hgvsWellDefined": "NP_001338440.1:p.Asn320Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520274" }, { "@id": "http://reg.genome.network/allele/PA2827614889", "coordinates": [ { "allele": "G", "end": 1148, "referenceAllele": "A", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351512.1:c.932A>G" ], "proteinEffect": { "hgvs": "NP_001338441.1:p.Asn311Ser", "hgvsWellDefined": "NP_001338441.1:p.Asn311Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520275" }, { "@id": "http://reg.genome.network/allele/PA2827615022", "coordinates": [ { "allele": "G", "end": 1142, "referenceAllele": "A", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351513.1:c.926A>G" ], "proteinEffect": { "hgvs": "NP_001338442.1:p.Asn309Ser", "hgvsWellDefined": "NP_001338442.1:p.Asn309Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520276" }, { "@id": "http://reg.genome.network/allele/PA2827615141", "coordinates": [ { "allele": "G", "end": 1303, "referenceAllele": "A", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351514.1:c.842A>G" ], "proteinEffect": { "hgvs": "NP_001338443.1:p.Asn281Ser", "hgvsWellDefined": "NP_001338443.1:p.Asn281Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520277" }, { "@id": "http://reg.genome.network/allele/PA2827615246", "coordinates": [ { "allele": "G", "end": 1519, "referenceAllele": "A", "start": 1518 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351515.1:c.767A>G" ], "proteinEffect": { "hgvs": "NP_001338444.1:p.Asn256Ser", "hgvsWellDefined": "NP_001338444.1:p.Asn256Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520278" }, { "@id": "http://reg.genome.network/allele/PA2827615432", "coordinates": [ { "allele": "G", "end": 1648, "referenceAllele": "A", "start": 1647 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351517.1:c.647A>G" ], "proteinEffect": { "hgvs": "NP_001338446.1:p.Asn216Ser", "hgvsWellDefined": "NP_001338446.1:p.Asn216Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520280" }, { "@id": "http://reg.genome.network/allele/PA2827615831", "coordinates": [ { "allele": "G", "end": 1428, "referenceAllele": "A", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351524.1:c.650A>G" ], "proteinEffect": { "hgvs": "NP_001338453.1:p.Asn217Ser", "hgvsWellDefined": "NP_001338453.1:p.Asn217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520287" }, { "@id": "http://reg.genome.network/allele/PA2827615921", "coordinates": [ { "allele": "G", "end": 1466, "referenceAllele": "A", "start": 1465 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351525.1:c.650A>G" ], "proteinEffect": { "hgvs": "NP_001338454.1:p.Asn217Ser", "hgvsWellDefined": "NP_001338454.1:p.Asn217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS520288" }, { "@id": "http://reg.genome.network/allele/PA2829992063", "coordinates": [ { "allele": "G", "end": 1400, "referenceAllele": "A", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_022037.3:c.1037A>G" ], "proteinEffect": { "hgvs": "NP_071320.2:p.Asn346Ser", "hgvsWellDefined": "NP_071320.2:p.Asn346Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS526072" }, { "@id": "http://reg.genome.network/allele/PA645382346", "coordinates": [ { "allele": "G", "end": 1433, "referenceAllele": "A", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_022173.3:c.1070A>G" ], "proteinEffect": { "hgvs": "NP_071505.2:p.Asn357Ser", "hgvsWellDefined": "NP_071505.2:p.Asn357Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS526081" }, { "coordinates": [ { "allele": "G", "end": 1427, "referenceAllele": "A", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147216.1:n.1427A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530756" }, { "coordinates": [ { "allele": "G", "end": 1308, "referenceAllele": "A", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147217.1:n.1308A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530757" }, { "coordinates": [ { "allele": "G", "end": 1305, "referenceAllele": "A", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147218.1:n.1305A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530758" }, { "coordinates": [ { "allele": "G", "end": 1542, "referenceAllele": "A", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147219.1:n.1542A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530759" }, { "coordinates": [ { "allele": "G", "end": 1528, "referenceAllele": "A", "start": 1527 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147220.1:n.1528A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530760" }, { "coordinates": [ { "allele": "G", "end": 1599, "referenceAllele": "A", "start": 1598 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147221.1:n.1599A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530761" }, { "coordinates": [ { "allele": "G", "end": 1594, "referenceAllele": "A", "start": 1593 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147222.1:n.1594A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530762" }, { "coordinates": [ { "allele": "G", "end": 1652, "referenceAllele": "A", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147223.1:n.1652A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530763" }, { "coordinates": [ { "allele": "G", "end": 1530, "referenceAllele": "A", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147224.1:n.1530A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530764" }, { "coordinates": [ { "allele": "G", "end": 1685, "referenceAllele": "A", "start": 1684 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147225.1:n.1685A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530765" }, { "coordinates": [ { "allele": "G", "end": 1533, "referenceAllele": "A", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147226.1:n.1533A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530766" }, { "coordinates": [ { "allele": "G", "end": 1603, "referenceAllele": "A", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147227.1:n.1603A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530767" }, { "coordinates": [ { "allele": "G", "end": 1566, "referenceAllele": "A", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147228.1:n.1566A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530768" }, { "coordinates": [ { "allele": "G", "end": 1509, "referenceAllele": "A", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147229.1:n.1509A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530769" }, { "coordinates": [ { "allele": "G", "end": 1751, "referenceAllele": "A", "start": 1750 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147230.1:n.1751A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530770" }, { "coordinates": [ { "allele": "G", "end": 1563, "referenceAllele": "A", "start": 1562 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147231.1:n.1563A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530771" }, { "coordinates": [ { "allele": "G", "end": 1436, "referenceAllele": "A", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147232.1:n.1436A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530772" }, { "coordinates": [ { "allele": "G", "end": 966, "referenceAllele": "A", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_005264528.5:c.875A>G" ], "proteinEffect": { "hgvs": "XP_005264585.1:p.Asn292Ser", "hgvsWellDefined": "XP_005264585.1:p.Asn292Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535900" }, { "coordinates": [ { "allele": "G", "end": 1381, "referenceAllele": "A", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_005264531.2:c.767A>G" ], "proteinEffect": { "hgvs": "XP_005264588.1:p.Asn256Ser", "hgvsWellDefined": "XP_005264588.1:p.Asn256Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS535901" }, { "coordinates": [ { "allele": "G", "end": 5632, "referenceAllele": "A", "start": 5631 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_011533082.2:c.770A>G" ], "proteinEffect": { "hgvs": "XP_011531384.1:p.Asn257Ser", "hgvsWellDefined": "XP_011531384.1:p.Asn257Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS551105" }, { "coordinates": [ { "allele": "G", "end": 3471, "referenceAllele": "A", "start": 3470 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_017004792.1:c.770A>G" ], "proteinEffect": { "hgvs": "XP_016860281.1:p.Asn257Ser", "hgvsWellDefined": "XP_016860281.1:p.Asn257Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS560214" }, { "coordinates": [ { "allele": "G", "end": 3262, "referenceAllele": "A", "start": 3261 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_017004793.2:c.770A>G" ], "proteinEffect": { "hgvs": "XP_016860282.1:p.Asn257Ser", "hgvsWellDefined": "XP_016860282.1:p.Asn257Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS560215" }, { "coordinates": [ { "allele": "G", "end": 2028, "referenceAllele": "A", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_017004794.1:c.770A>G" ], "proteinEffect": { "hgvs": "XP_016860283.1:p.Asn257Ser", "hgvsWellDefined": "XP_016860283.1:p.Asn257Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS560216" }, { "coordinates": [ { "allele": "G", "end": 1294, "referenceAllele": "A", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_017004795.1:c.767A>G" ], "proteinEffect": { "hgvs": "XP_016860284.1:p.Asn256Ser", "hgvsWellDefined": "XP_016860284.1:p.Asn256Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS560217" }, { "coordinates": [ { "allele": "G", "end": 4802, "referenceAllele": "A", "start": 4801 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_017004796.1:c.650A>G" ], "proteinEffect": { "hgvs": "XP_016860285.1:p.Asn217Ser", "hgvsWellDefined": "XP_016860285.1:p.Asn217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS560218" }, { "coordinates": [ { "allele": "G", "end": 1258, "referenceAllele": "A", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_017004800.1:c.650A>G" ], "proteinEffect": { "hgvs": "XP_016860289.1:p.Asn217Ser", "hgvsWellDefined": "XP_016860289.1:p.Asn217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS560219" }, { "coordinates": [ { "allele": "G", "end": 2077, "referenceAllele": "A", "start": 2076 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_024453063.1:c.650A>G" ], "proteinEffect": { "hgvs": "XP_024308831.1:p.Asn217Ser", "hgvsWellDefined": "XP_024308831.1:p.Asn217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS586450" }, { "coordinates": [ { "allele": "G", "end": 2443, "referenceAllele": "A", "start": 2442 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_024453064.1:c.650A>G" ], "proteinEffect": { "hgvs": "XP_024308832.1:p.Asn217Ser", "hgvsWellDefined": "XP_024308832.1:p.Asn217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS586451" }, { "coordinates": [ { "allele": "G", "end": 2736, "referenceAllele": "A", "start": 2735 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_024453065.1:c.650A>G" ], "proteinEffect": { "hgvs": "XP_024308833.1:p.Asn217Ser", "hgvsWellDefined": "XP_024308833.1:p.Asn217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS586452" }, { "coordinates": [ { "allele": "G", "end": 2699, "referenceAllele": "A", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_024453066.1:c.650A>G" ], "proteinEffect": { "hgvs": "XP_024308834.1:p.Asn217Ser", "hgvsWellDefined": "XP_024308834.1:p.Asn217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS586453" }, { "coordinates": [ { "allele": "G", "end": 2392, "referenceAllele": "A", "start": 2391 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XM_024453067.1:c.647A>G" ], "proteinEffect": { "hgvs": "XP_024308835.1:p.Asn216Ser", "hgvsWellDefined": "XP_024308835.1:p.Asn216Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS586454" }, { "coordinates": [ { "allele": "G", "end": 4654, "referenceAllele": "A", "start": 4653 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XR_002959329.1:n.4654A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS605262" }, { "coordinates": [ { "allele": "G", "end": 2488, "referenceAllele": "A", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XR_002959330.1:n.2488A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS605263" }, { "coordinates": [ { "allele": "G", "end": 4651, "referenceAllele": "A", "start": 4650 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XR_002959331.1:n.4651A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS605264" }, { "coordinates": [ { "allele": "G", "end": 2194, "referenceAllele": "A", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "XR_002959332.1:n.2194A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS605265" }, { "@id": "http://reg.genome.network/allele/PA645382346", "coordinates": [ { "allele": "G", "end": 1268, "referenceAllele": "A", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_022173.4:c.1070A>G" ], "proteinEffect": { "hgvs": "NP_071505.2:p.Asn357Ser", "hgvsWellDefined": "NP_071505.2:p.Asn357Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS670409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000433529.7:c.1070A>G" }, "RefSeq": { "hgvs": "NM_022173.4:c.1070A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000401371.2:p.Asn357Ser" }, "RefSeq": { "hgvs": "NP_071505.2:p.Asn357Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2827614337", "coordinates": [ { "allele": "G", "end": 1265, "referenceAllele": "A", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351508.2:c.1067A>G" ], "proteinEffect": { "hgvs": "NP_001338437.1:p.Asn356Ser", "hgvsWellDefined": "NP_001338437.1:p.Asn356Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688855" }, { "@id": "http://reg.genome.network/allele/PA2827614484", "coordinates": [ { "allele": "G", "end": 1241, "referenceAllele": "A", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351509.2:c.1043A>G" ], "proteinEffect": { "hgvs": "NP_001338438.1:p.Asn348Ser", "hgvsWellDefined": "NP_001338438.1:p.Asn348Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688856" }, { "@id": "http://reg.genome.network/allele/PA2827614630", "coordinates": [ { "allele": "G", "end": 1232, "referenceAllele": "A", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351510.2:c.1034A>G" ], "proteinEffect": { "hgvs": "NP_001338439.1:p.Asn345Ser", "hgvsWellDefined": "NP_001338439.1:p.Asn345Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688857" }, { "@id": "http://reg.genome.network/allele/PA2827615141", "coordinates": [ { "allele": "G", "end": 1138, "referenceAllele": "A", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351514.2:c.842A>G" ], "proteinEffect": { "hgvs": "NP_001338443.1:p.Asn281Ser", "hgvsWellDefined": "NP_001338443.1:p.Asn281Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688858" }, { "@id": "http://reg.genome.network/allele/PA2827615246", "coordinates": [ { "allele": "G", "end": 1354, "referenceAllele": "A", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351515.2:c.767A>G" ], "proteinEffect": { "hgvs": "NP_001338444.1:p.Asn256Ser", "hgvsWellDefined": "NP_001338444.1:p.Asn256Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688859" }, { "@id": "http://reg.genome.network/allele/PA2827615432", "coordinates": [ { "allele": "G", "end": 1483, "referenceAllele": "A", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351517.2:c.647A>G" ], "proteinEffect": { "hgvs": "NP_001338446.1:p.Asn216Ser", "hgvsWellDefined": "NP_001338446.1:p.Asn216Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688861" }, { "@id": "http://reg.genome.network/allele/PA2827615831", "coordinates": [ { "allele": "G", "end": 1263, "referenceAllele": "A", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351524.2:c.650A>G" ], "proteinEffect": { "hgvs": "NP_001338453.1:p.Asn217Ser", "hgvsWellDefined": "NP_001338453.1:p.Asn217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688867" }, { "@id": "http://reg.genome.network/allele/PA2827615921", "coordinates": [ { "allele": "G", "end": 1301, "referenceAllele": "A", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_001351525.2:c.650A>G" ], "proteinEffect": { "hgvs": "NP_001338454.1:p.Asn217Ser", "hgvsWellDefined": "NP_001338454.1:p.Asn217Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688868" }, { "@id": "http://reg.genome.network/allele/PA2829992063", "coordinates": [ { "allele": "G", "end": 1235, "referenceAllele": "A", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NM_022037.4:c.1037A>G" ], "proteinEffect": { "hgvs": "NP_071320.2:p.Asn346Ser", "hgvsWellDefined": "NP_071320.2:p.Asn346Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS698485" }, { "coordinates": [ { "allele": "G", "end": 1377, "referenceAllele": "A", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147219.2:n.1377A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704540" }, { "coordinates": [ { "allele": "G", "end": 1363, "referenceAllele": "A", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147220.2:n.1363A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704541" }, { "coordinates": [ { "allele": "G", "end": 1434, "referenceAllele": "A", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147221.2:n.1434A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704542" }, { "coordinates": [ { "allele": "G", "end": 1429, "referenceAllele": "A", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147222.2:n.1429A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704543" }, { "coordinates": [ { "allele": "G", "end": 1487, "referenceAllele": "A", "start": 1486 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147223.2:n.1487A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704544" }, { "coordinates": [ { "allele": "G", "end": 1365, "referenceAllele": "A", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147224.2:n.1365A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704545" }, { "coordinates": [ { "allele": "G", "end": 1520, "referenceAllele": "A", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147225.2:n.1520A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704546" }, { "coordinates": [ { "allele": "G", "end": 1368, "referenceAllele": "A", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147226.2:n.1368A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704547" }, { "coordinates": [ { "allele": "G", "end": 1438, "referenceAllele": "A", "start": 1437 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147227.2:n.1438A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704548" }, { "coordinates": [ { "allele": "G", "end": 1401, "referenceAllele": "A", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147228.2:n.1401A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704549" }, { "coordinates": [ { "allele": "G", "end": 1344, "referenceAllele": "A", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147229.2:n.1344A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704550" }, { "coordinates": [ { "allele": "G", "end": 1586, "referenceAllele": "A", "start": 1585 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147230.2:n.1586A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704551" }, { "coordinates": [ { "allele": "G", "end": 1398, "referenceAllele": "A", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147231.2:n.1398A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704552" }, { "coordinates": [ { "allele": "G", "end": 1271, "referenceAllele": "A", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN011802", "geneNCBI_id": 7072, "geneSymbol": "TIA1", "hgvs": [ "NR_147232.2:n.1271A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704553" } ], "type": "nucleotide" }