{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA15446650", "communityStandardTitle": [ "NM_003376.6(VEGFA):c.*1026G>A" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43753325G>A?assembly=hg19", "id": "chr6:g.43753325G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43785588G>A?assembly=hg38", "id": "chr6:g.43785588G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/3025053", "rs": 3025053 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43753325-G-A?dataset=gnomad_r2_1", "id": "6-43753325-G-A", "variant": "6:43753325 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43785588-G-A?dataset=gnomad_r3", "id": "6-43785588-G-A", "variant": "6:43785588 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43785588-G-A?dataset=gnomad_r4", "id": "6-43785588-G-A", "variant": "6:43785588 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 43785588, "referenceAllele": "G", "start": 43785587 } ], "hgvs": [ "NC_000006.12:g.43785588G>A", "CM000668.2:g.43785588G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 43753325, "referenceAllele": "G", "start": 43753324 } ], "hgvs": [ "NC_000006.11:g.43753325G>A", "CM000668.1:g.43753325G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 43861303, "referenceAllele": "G", "start": 43861302 } ], "hgvs": [ "NC_000006.10:g.43861303G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 20373, "referenceAllele": "G", "start": 20372 } ], "hgvs": [ "NG_008732.1:g.20373G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001190" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2638, "referenceAllele": "G", "start": 2637 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000425836.9:c.*960G>A" ], "proteinEffect": { "hgvs": "ENSP00000388465.4:n.*960G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS904800" }, { "coordinates": [ { "allele": "A", "end": 2636, "referenceAllele": "G", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000425836.8:c.*960G>A" ], "proteinEffect": { "hgvs": "ENSP00000388465.4:n.*960G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS824775" }, { "coordinates": [ { "allele": "A", "end": 2710, "referenceAllele": "G", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000672860.3:c.*1026G>A" ], "proteinEffect": { "hgvs": "ENSP00000500082.3:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS826867", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000672860.3:c.*1026G>A" }, "RefSeq": { "hgvs": "NM_003376.6:c.*1026G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000500082.3:n.*1026G>A" }, "RefSeq": { "hgvs": "NP_003367.4:n.*1026G>A" } } } }, { "coordinates": [ { "allele": "A", "end": 2010, "referenceAllele": "G", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000372064.9:c.2010G>A" ], "proteinEffect": { "hgvs": "ENSP00000361134.5:n.2010G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS750927" }, { "coordinates": [ { "allele": "A", "end": 2636, "referenceAllele": "G", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000372067.8:c.*1026G>A" ], "proteinEffect": { "hgvs": "ENSP00000361137.4:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS750929" }, { "coordinates": [ { "allele": "A", "end": 2636, "referenceAllele": "G", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000672860.2:c.*960G>A" ], "proteinEffect": { "hgvs": "ENSP00000500082.2:n.*960G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773517" }, { "coordinates": [ { "allele": "A", "end": 2010, "referenceAllele": "G", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000372064.8:c.2010G>A" ], "proteinEffect": { "hgvs": "ENSP00000361134.4:n.2010G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS268902" }, { "coordinates": [ { "allele": "A", "end": 2636, "referenceAllele": "G", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000372067.7:c.*1026G>A" ], "proteinEffect": { "hgvs": "ENSP00000361137.3:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS268904" }, { "coordinates": [ { "allele": "A", "end": 1935, "referenceAllele": "G", "start": 1934 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000372077.8:c.*1026G>A" ], "proteinEffect": { "hgvs": "ENSP00000361148.4:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS268911" }, { "coordinates": [ { "allele": "A", "end": 11271, "referenceAllele": "G", "start": 11270 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000480614.1:n.11271G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320721" }, { "coordinates": [ { "allele": "A", "end": 1895, "referenceAllele": "G", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000497139.5:n.1895G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS333441" }, { "coordinates": [ { "allele": "A", "end": 2763, "referenceAllele": "G", "start": 2762 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000611736.4:c.*1026G>A" ], "proteinEffect": { "hgvs": "ENSP00000478570.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS400988" }, { "coordinates": [ { "allele": "A", "end": 2508, "referenceAllele": "G", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000615393.4:c.*1026G>A" ], "proteinEffect": { "hgvs": "ENSP00000478034.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS402602" }, { "coordinates": [ { "allele": "A", "end": 2478, "referenceAllele": "G", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000617771.4:c.*1026G>A" ], "proteinEffect": { "hgvs": "ENSP00000484284.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS403628" }, { "coordinates": [ { "allele": "A", "end": 2640, "referenceAllele": "G", "start": 2639 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "ENST00000621747.4:c.*1026G>A" ], "proteinEffect": { "hgvs": "ENSP00000483241.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405418" }, { "coordinates": [ { "allele": "A", "end": 2763, "referenceAllele": "G", "start": 2762 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001025366.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001020537.2:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS008881" }, { "coordinates": [ { "allele": "A", "end": 2694, "referenceAllele": "G", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001025367.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001020538.2:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS008882" }, { "coordinates": [ { "allele": "A", "end": 2640, "referenceAllele": "G", "start": 2639 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001025368.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001020539.2:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS008883" }, { "coordinates": [ { "allele": "A", "end": 2605, "referenceAllele": "G", "start": 2604 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001025369.2:c.*1042G>A" ], "proteinEffect": { "hgvs": "NP_001020540.2:n.*1042G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS008884" }, { "coordinates": [ { "allele": "A", "end": 2508, "referenceAllele": "G", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001025370.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001020541.2:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS008885" }, { "coordinates": [ { "allele": "A", "end": 2574, "referenceAllele": "G", "start": 2573 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001033756.2:c.*960G>A" ], "proteinEffect": { "hgvs": "NP_001028928.1:n.*960G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS009165" }, { "coordinates": [ { "allele": "A", "end": 2478, "referenceAllele": "G", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171622.1:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165093.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015336" }, { "coordinates": [ { "allele": "A", "end": 2763, "referenceAllele": "G", "start": 2762 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171623.1:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165094.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015337" }, { "coordinates": [ { "allele": "A", "end": 2712, "referenceAllele": "G", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171624.1:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165095.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015338" }, { "coordinates": [ { "allele": "A", "end": 2694, "referenceAllele": "G", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171625.1:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165096.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015339" }, { "coordinates": [ { "allele": "A", "end": 2640, "referenceAllele": "G", "start": 2639 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171626.1:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165097.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015340" }, { "coordinates": [ { "allele": "A", "end": 2605, "referenceAllele": "G", "start": 2604 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171627.1:c.*1042G>A" ], "proteinEffect": { "hgvs": "NP_001165098.1:n.*1042G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015341" }, { "coordinates": [ { "allele": "A", "end": 2508, "referenceAllele": "G", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171628.1:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165099.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015342" }, { "coordinates": [ { "allele": "A", "end": 2574, "referenceAllele": "G", "start": 2573 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171629.1:c.*960G>A" ], "proteinEffect": { "hgvs": "NP_001165100.1:n.*960G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015343" }, { "coordinates": [ { "allele": "A", "end": 2478, "referenceAllele": "G", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171630.1:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165101.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015344" }, { "coordinates": [ { "allele": "A", "end": 2580, "referenceAllele": "G", "start": 2579 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001204384.1:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001191313.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS017629" }, { "coordinates": [ { "allele": "A", "end": 2580, "referenceAllele": "G", "start": 2579 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001204385.1:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001191314.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS017630" }, { "coordinates": [ { "allele": "A", "end": 1653, "referenceAllele": "G", "start": 1652 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001287044.1:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001273973.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS023233" }, { "coordinates": [ { "allele": "A", "end": 2640, "referenceAllele": "G", "start": 2639 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001317010.1:c.*960G>A" ], "proteinEffect": { "hgvs": "NP_001303939.1:n.*960G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS026684" }, { "coordinates": [ { "allele": "A", "end": 2712, "referenceAllele": "G", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_003376.5:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_003367.4:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS028623" }, { "coordinates": [ { "allele": "A", "end": 2761, "referenceAllele": "G", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001025366.3:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001020537.2:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS675683" }, { "coordinates": [ { "allele": "A", "end": 2692, "referenceAllele": "G", "start": 2691 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001025367.3:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001020538.2:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS675684" }, { "coordinates": [ { "allele": "A", "end": 2638, "referenceAllele": "G", "start": 2637 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001025368.3:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001020539.2:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS675685" }, { "coordinates": [ { "allele": "A", "end": 2603, "referenceAllele": "G", "start": 2602 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001025369.3:c.*1042G>A" ], "proteinEffect": { "hgvs": "NP_001020540.2:n.*1042G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS675686" }, { "coordinates": [ { "allele": "A", "end": 2506, "referenceAllele": "G", "start": 2505 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001025370.3:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001020541.2:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS675687" }, { "coordinates": [ { "allele": "A", "end": 2572, "referenceAllele": "G", "start": 2571 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001033756.3:c.*960G>A" ], "proteinEffect": { "hgvs": "NP_001028928.1:n.*960G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS675803" }, { "coordinates": [ { "allele": "A", "end": 2476, "referenceAllele": "G", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171622.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165093.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS678701" }, { "coordinates": [ { "allele": "A", "end": 2578, "referenceAllele": "G", "start": 2577 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001204385.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001191314.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS679833" }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001287044.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001273973.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682359" }, { "coordinates": [ { "allele": "A", "end": 2710, "referenceAllele": "G", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_003376.6:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_003367.4:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS695805", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000672860.3:c.*1026G>A" }, "RefSeq": { "hgvs": "NM_003376.6:c.*1026G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000500082.3:n.*1026G>A" }, "RefSeq": { "hgvs": "NP_003367.4:n.*1026G>A" } } } }, { "coordinates": [ { "allele": "A", "end": 2761, "referenceAllele": "G", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171623.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165094.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713371" }, { "coordinates": [ { "allele": "A", "end": 2710, "referenceAllele": "G", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171624.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165095.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713372" }, { "coordinates": [ { "allele": "A", "end": 2692, "referenceAllele": "G", "start": 2691 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171625.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165096.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713373" }, { "coordinates": [ { "allele": "A", "end": 2638, "referenceAllele": "G", "start": 2637 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171626.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165097.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713374" }, { "coordinates": [ { "allele": "A", "end": 2603, "referenceAllele": "G", "start": 2602 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171627.2:c.*1042G>A" ], "proteinEffect": { "hgvs": "NP_001165098.1:n.*1042G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713375" }, { "coordinates": [ { "allele": "A", "end": 2506, "referenceAllele": "G", "start": 2505 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171628.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165099.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713376" }, { "coordinates": [ { "allele": "A", "end": 2572, "referenceAllele": "G", "start": 2571 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171629.2:c.*960G>A" ], "proteinEffect": { "hgvs": "NP_001165100.1:n.*960G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713377" }, { "coordinates": [ { "allele": "A", "end": 2476, "referenceAllele": "G", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001171630.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001165101.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713378" }, { "coordinates": [ { "allele": "A", "end": 2578, "referenceAllele": "G", "start": 2577 } ], "gene": "http://reg.genome.network/gene/GN012680", "geneNCBI_id": 7422, "geneSymbol": "VEGFA", "hgvs": [ "NM_001204384.2:c.*1026G>A" ], "proteinEffect": { "hgvs": "NP_001191313.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS714149" }, { "coordinates": [ { "allele": "A", "end": 966, "endIntronDirection": "+", "endIntronOffset": 256317, "referenceAllele": "G", "start": 966, "startIntronDirection": "+", "startIntronOffset": 256316 } ], "gene": "http://reg.genome.network/gene/GN020194", "geneNCBI_id": 9533, "geneSymbol": "POLR1C", "hgvs": [ "NM_001318876.2:c.945+256317G>A" ], "proteinEffect": { "hgvs": "NP_001305805.1:n.945+256317G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS717620" } ], "type": "nucleotide" }