{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA380074608", "communityStandardTitle": [ "NM_001709.5(BDNF):c.196G>T (p.Val66Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.27679916C>A?assembly=hg19", "id": "chr11:g.27679916C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.27658369C>A?assembly=hg38", "id": "chr11:g.27658369C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/6265", "rs": 6265 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 27658369, "referenceAllele": "C", "start": 27658368 } ], "hgvs": [ "NC_000011.10:g.27658369C>A", "CM000673.2:g.27658369C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 27679916, "referenceAllele": "C", "start": 27679915 } ], "hgvs": [ "NC_000011.9:g.27679916C>A", "CM000673.1:g.27679916C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 27636492, "referenceAllele": "C", "start": 27636491 } ], "hgvs": [ "NC_000011.8:g.27636492C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 68690, "referenceAllele": "G", "start": 68689 } ], "hgvs": [ "NG_011794.1:g.68690G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001976" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 509, "referenceAllele": "G", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000356660.9:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000349084.4:p.Val66Leu", "hgvsWellDefined": "ENSP00000349084.4:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS748826", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356660.9:c.196G>T" }, "RefSeq": { "hgvs": "NM_001709.5:c.196G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349084.4:p.Val66Leu" }, "RefSeq": { "hgvs": "NP_001700.2:p.Val66Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000314915.6:c.220G>T" ], "proteinEffect": { "hgvs": "ENSP00000320002.6:p.Val74Leu", "hgvsWellDefined": "ENSP00000320002.6:p.Val74Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS257028" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000356660.8:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000349084.4:p.Val66Leu", "hgvsWellDefined": "ENSP00000349084.4:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS263832" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000395978.7:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000379302.3:p.Val66Leu", "hgvsWellDefined": "ENSP00000379302.3:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS277022" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000395980.6:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000379304.2:p.Val66Leu", "hgvsWellDefined": "ENSP00000379304.2:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS277024" }, { "coordinates": [ { "allele": "T", "end": 595, "referenceAllele": "G", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000395981.7:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000379305.3:p.Val66Leu", "hgvsWellDefined": "ENSP00000379305.3:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS277025" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000395983.7:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000379307.3:p.Val66Leu", "hgvsWellDefined": "ENSP00000379307.3:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS277026" }, { "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "G", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000395986.6:c.241G>T" ], "proteinEffect": { "hgvs": "ENSP00000379309.2:p.Val81Leu", "hgvsWellDefined": "ENSP00000379309.2:p.Val81Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS277027" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000418212.5:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000400502.1:p.Val66Leu", "hgvsWellDefined": "ENSP00000400502.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS285298" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "G", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000420794.2:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000389564.1:p.Val66Leu", "hgvsWellDefined": "ENSP00000389564.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS286489" }, { "coordinates": [ { "allele": "T", "end": 583, "referenceAllele": "G", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000438929.5:c.442G>T" ], "proteinEffect": { "hgvs": "ENSP00000414303.1:p.Val148Leu", "hgvsWellDefined": "ENSP00000414303.1:p.Val148Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS295175" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "G", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000439476.6:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000389345.2:p.Val66Leu", "hgvsWellDefined": "ENSP00000389345.2:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS295440" }, { "coordinates": [ { "allele": "T", "end": 1290, "referenceAllele": "G", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000525528.1:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000437138.1:p.Val66Leu", "hgvsWellDefined": "ENSP00000437138.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS351538" }, { "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000525950.5:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000432035.1:p.Val66Leu", "hgvsWellDefined": "ENSP00000432035.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS351891" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "G", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000530786.5:c.*325G>T" ], "proteinEffect": { "hgvs": "ENSP00000433003.1:n.*325G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS355984" }, { "coordinates": [ { "allele": "T", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000530861.5:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000435564.1:p.Val66Leu", "hgvsWellDefined": "ENSP00000435564.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS356046" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000532997.5:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000435805.1:p.Val66Leu", "hgvsWellDefined": "ENSP00000435805.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS357830" }, { "coordinates": [ { "allele": "T", "end": 402, "referenceAllele": "G", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000533131.5:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000432727.1:p.Val66Leu", "hgvsWellDefined": "ENSP00000432727.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS357947" }, { "coordinates": [ { "allele": "T", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000533246.5:c.196G>T" ], "proteinEffect": { "hgvs": "ENSP00000432376.1:p.Val66Leu", "hgvsWellDefined": "ENSP00000432376.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS358051" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "ENST00000584049.5:n.554G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388038" }, { "coordinates": [ { "allele": "T", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143805.1:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137277.1:p.Val66Leu", "hgvsWellDefined": "NP_001137277.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013140" }, { "coordinates": [ { "allele": "T", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143806.1:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137278.1:p.Val66Leu", "hgvsWellDefined": "NP_001137278.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013141" }, { "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143807.1:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137279.1:p.Val66Leu", "hgvsWellDefined": "NP_001137279.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013142" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "G", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143808.1:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137280.1:p.Val66Leu", "hgvsWellDefined": "NP_001137280.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013143" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143809.1:c.283G>T" ], "proteinEffect": { "hgvs": "NP_001137281.1:p.Val95Leu", "hgvsWellDefined": "NP_001137281.1:p.Val95Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013144" }, { "coordinates": [ { "allele": "T", "end": 583, "referenceAllele": "G", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143810.1:c.442G>T" ], "proteinEffect": { "hgvs": "NP_001137282.1:p.Val148Leu", "hgvsWellDefined": "NP_001137282.1:p.Val148Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013145" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "G", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143811.1:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137283.1:p.Val66Leu", "hgvsWellDefined": "NP_001137283.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013146" }, { "coordinates": [ { "allele": "T", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143812.1:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137284.1:p.Val66Leu", "hgvsWellDefined": "NP_001137284.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013147" }, { "coordinates": [ { "allele": "T", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143813.1:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137285.1:p.Val66Leu", "hgvsWellDefined": "NP_001137285.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013148" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143814.1:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137286.1:p.Val66Leu", "hgvsWellDefined": "NP_001137286.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013149" }, { "coordinates": [ { "allele": "T", "end": 1047, "referenceAllele": "G", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143816.1:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137288.1:p.Val66Leu", "hgvsWellDefined": "NP_001137288.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS013150" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001709.4:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001700.2:p.Val66Leu", "hgvsWellDefined": "NP_001700.2:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS027044" }, { "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_170731.4:c.220G>T" ], "proteinEffect": { "hgvs": "NP_733927.1:p.Val74Leu", "hgvsWellDefined": "NP_733927.1:p.Val74Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS042576" }, { "coordinates": [ { "allele": "T", "end": 651, "referenceAllele": "G", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_170732.4:c.196G>T" ], "proteinEffect": { "hgvs": "NP_733928.1:p.Val66Leu", "hgvsWellDefined": "NP_733928.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS042577" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "G", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_170733.3:c.196G>T" ], "proteinEffect": { "hgvs": "NP_733929.1:p.Val66Leu", "hgvsWellDefined": "NP_733929.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS042578" }, { "coordinates": [ { "allele": "T", "end": 502, "referenceAllele": "G", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_170734.3:c.241G>T" ], "proteinEffect": { "hgvs": "NP_733930.1:p.Val81Leu", "hgvsWellDefined": "NP_733930.1:p.Val81Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS042579" }, { "@id": "http://reg.genome.network/allele/PA3077687950", "coordinates": [ { "allele": "T", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_170735.5:c.196G>T" ], "proteinEffect": { "hgvs": "NP_733931.1:p.Val66Leu", "hgvsWellDefined": "NP_733931.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS042580" }, { "coordinates": [ { "allele": "A", "end": 503, "referenceAllele": "C", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN020608", "geneNCBI_id": 497258, "geneSymbol": "BDNF-AS", "hgvs": [ "NR_002832.2:n.503C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS045971" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN020608", "geneNCBI_id": 497258, "geneSymbol": "BDNF-AS", "hgvs": [ "NR_033312.1:n.434C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS048950" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN020608", "geneNCBI_id": 497258, "geneSymbol": "BDNF-AS", "hgvs": [ "NR_033313.1:n.434C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS048951" }, { "coordinates": [ { "allele": "A", "end": 503, "referenceAllele": "C", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN020608", "geneNCBI_id": 497258, "geneSymbol": "BDNF-AS", "hgvs": [ "NR_033314.1:n.503C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS048952" }, { "coordinates": [ { "allele": "A", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN020608", "geneNCBI_id": 497258, "geneSymbol": "BDNF-AS", "hgvs": [ "NR_033315.1:n.434C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS048953" }, { "coordinates": [ { "allele": "T", "end": 1447, "referenceAllele": "G", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "XM_011520280.1:c.442G>T" ], "proteinEffect": { "hgvs": "XP_011518582.1:p.Val148Leu", "hgvsWellDefined": "XP_011518582.1:p.Val148Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS087449" }, { "coordinates": [ { "allele": "T", "end": 1448, "referenceAllele": "G", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "XM_011520280.2:c.442G>T" ], "proteinEffect": { "hgvs": "XP_011518582.1:p.Val148Leu", "hgvsWellDefined": "XP_011518582.1:p.Val148Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS545666" }, { "coordinates": [ { "allele": "T", "end": 509, "referenceAllele": "G", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001709.5:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001700.2:p.Val66Leu", "hgvsWellDefined": "NP_001700.2:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS665126", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356660.9:c.196G>T" }, "RefSeq": { "hgvs": "NM_001709.5:c.196G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349084.4:p.Val66Leu" }, "RefSeq": { "hgvs": "NP_001700.2:p.Val66Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 273, "referenceAllele": "G", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143807.2:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137279.1:p.Val66Leu", "hgvsWellDefined": "NP_001137279.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677654" }, { "coordinates": [ { "allele": "T", "end": 491, "referenceAllele": "G", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143813.2:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137285.1:p.Val66Leu", "hgvsWellDefined": "NP_001137285.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677655" }, { "coordinates": [ { "allele": "T", "end": 616, "referenceAllele": "G", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143814.2:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137286.1:p.Val66Leu", "hgvsWellDefined": "NP_001137286.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS677656" }, { "coordinates": [ { "allele": "T", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_170731.5:c.220G>T" ], "proteinEffect": { "hgvs": "NP_733927.1:p.Val74Leu", "hgvsWellDefined": "NP_733927.1:p.Val74Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS700453" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "G", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143808.2:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137280.1:p.Val66Leu", "hgvsWellDefined": "NP_001137280.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS712650" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143809.2:c.283G>T" ], "proteinEffect": { "hgvs": "NP_001137281.1:p.Val95Leu", "hgvsWellDefined": "NP_001137281.1:p.Val95Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS712651" }, { "coordinates": [ { "allele": "T", "end": 583, "referenceAllele": "G", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143810.2:c.442G>T" ], "proteinEffect": { "hgvs": "NP_001137282.1:p.Val148Leu", "hgvsWellDefined": "NP_001137282.1:p.Val148Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS712652" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "G", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143811.2:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137283.1:p.Val66Leu", "hgvsWellDefined": "NP_001137283.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS712653" }, { "coordinates": [ { "allele": "T", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143812.2:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137284.1:p.Val66Leu", "hgvsWellDefined": "NP_001137284.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS712654" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "G", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_001143816.2:c.196G>T" ], "proteinEffect": { "hgvs": "NP_001137288.1:p.Val66Leu", "hgvsWellDefined": "NP_001137288.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS712655" }, { "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_170733.4:c.196G>T" ], "proteinEffect": { "hgvs": "NP_733929.1:p.Val66Leu", "hgvsWellDefined": "NP_733929.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS729505" }, { "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "G", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_170734.4:c.241G>T" ], "proteinEffect": { "hgvs": "NP_733930.1:p.Val81Leu", "hgvsWellDefined": "NP_733930.1:p.Val81Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS729506" }, { "@id": "http://reg.genome.network/allele/PA3077687950", "coordinates": [ { "allele": "T", "end": 1290, "referenceAllele": "G", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN001033", "geneNCBI_id": 627, "geneSymbol": "BDNF", "hgvs": [ "NM_170735.6:c.196G>T" ], "proteinEffect": { "hgvs": "NP_733931.1:p.Val66Leu", "hgvsWellDefined": "NP_733931.1:p.Val66Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS729507" } ], "type": "nucleotide" }