{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10231275", "communityStandardTitle": [ "NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415714[alleleid]", "alleleId": 415714, "preferredName": "NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426191", "RCV": [ "RCV000585504", "RCV000765651", "RCV001083799", "RCV001150840", "RCV003925420" ], "variationId": 426191 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/22-38541454-C-T", "id": "22-38541454-C-T", "variant": "22:38541454 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.38541454C>T?assembly=hg19", "id": "chr22:g.38541454C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.38145447C>T?assembly=hg38", "id": "chr22:g.38145447C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/141825182", "rs": 141825182 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-38541454-C-T?dataset=gnomad_r2_1", "id": "22-38541454-C-T", "variant": "22:38541454 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-38145447-C-T?dataset=gnomad_r3", "id": "22-38145447-C-T", "variant": "22:38145447 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-38145447-C-T?dataset=gnomad_r4", "id": "22-38145447-C-T", "variant": "22:38145447 C / T" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 38145447, "referenceAllele": "C", "start": 38145446 } ], "hgvs": [ "NC_000022.11:g.38145447C>T", "CM000684.2:g.38145447C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 38541454, "referenceAllele": "C", "start": 38541453 } ], "hgvs": [ "NC_000022.10:g.38541454C>T", "CM000684.1:g.38541454C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 36871400, "referenceAllele": "C", "start": 36871399 } ], "hgvs": [ "NC_000022.9:g.36871400C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "A", "end": 65244, "referenceAllele": "G", "start": 65243 } ], "hgvs": [ "NG_007094.2:g.65244G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000475" }, { "coordinates": [ { "allele": "A", "end": 74332, "referenceAllele": "G", "start": 74331 } ], "hgvs": [ "NG_007094.3:g.74332G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS733306" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000332509.8:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000333142.3:p.Arg139His", "hgvsWellDefined": "ENSP00000333142.3:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS747235", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000332509.8:c.416G>A" }, "RefSeq": { "hgvs": "NM_003560.4:c.416G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000333142.3:p.Arg139His" }, "RefSeq": { "hgvs": "NP_003551.2:p.Arg139His" } } } }, { "coordinates": [ { "allele": "A", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000427114.6:c.-119G>A" ], "proteinEffect": { "hgvs": "ENSP00000407743.2:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS755160" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "G", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000436218.6:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000401242.1:p.Arg139His", "hgvsWellDefined": "ENSP00000401242.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS755604" }, { "coordinates": [ { "allele": "A", "end": 499, "referenceAllele": "G", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000655142.1:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000499715.1:p.Arg139His", "hgvsWellDefined": "ENSP00000499715.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS772487" }, { "coordinates": [ { "allele": "A", "end": 783, "referenceAllele": "G", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000660610.1:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000499555.1:p.Arg139His", "hgvsWellDefined": "ENSP00000499555.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS772698" }, { "coordinates": [ { "allele": "A", "end": 500, "referenceAllele": "G", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000663895.1:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000499712.1:p.Arg139His", "hgvsWellDefined": "ENSP00000499712.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS772835" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "G", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000664587.1:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000499394.1:p.Arg139His", "hgvsWellDefined": "ENSP00000499394.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS772864" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000665987.1:c.*317G>A" ], "proteinEffect": { "hgvs": "ENSP00000499423.1:n.*317G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772926" }, { "coordinates": [ { "allele": "A", "end": 478, "referenceAllele": "G", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000667521.1:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000499665.1:p.Arg139His", "hgvsWellDefined": "ENSP00000499665.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS772984" }, { "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "G", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000668208.1:n.546G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773012" }, { "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "G", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000668499.1:c.*247G>A" ], "proteinEffect": { "hgvs": "ENSP00000499626.1:n.*247G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773025" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000668949.1:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000499711.1:p.Arg139His", "hgvsWellDefined": "ENSP00000499711.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS773045" }, { "coordinates": [ { "allele": "A", "end": 510, "referenceAllele": "G", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000671093.1:n.510G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773124" }, { "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "G", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000673413.1:c.*247G>A" ], "proteinEffect": { "hgvs": "ENSP00000500600.1:n.*247G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773671" }, { "coordinates": [ { "allele": "A", "end": 600, "referenceAllele": "G", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000332509.7:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000333142.3:p.Arg139His", "hgvsWellDefined": "ENSP00000333142.3:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS259571" }, { "coordinates": [ { "allele": "A", "end": 552, "referenceAllele": "G", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000335539.7:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000335149.3:p.Arg139His", "hgvsWellDefined": "ENSP00000335149.3:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS260146" }, { "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "G", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000402064.5:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000386100.1:p.Arg139His", "hgvsWellDefined": "ENSP00000386100.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS279399" }, { "coordinates": [ { "allele": "A", "end": 18, "referenceAllele": "G", "start": 17 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000427114.5:c.18G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS289536" }, { "coordinates": [ { "allele": "A", "end": 367, "endIntronDirection": "-", "endIntronOffset": 2158, "referenceAllele": "G", "start": 367, "startIntronDirection": "-", "startIntronOffset": 2159 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000430886.5:c.210-2159G>A" ], "proteinEffect": { "hgvs": "ENSP00000395464.1:n.210-2159G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS291366" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000436218.5:c.416G>A" ], "proteinEffect": { "hgvs": "ENSP00000401242.1:p.Arg139His", "hgvsWellDefined": "ENSP00000401242.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS293864" }, { "coordinates": [ { "allele": "A", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000445591.5:n.465G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS298354" }, { "coordinates": [ { "allele": "A", "end": 380, "referenceAllele": "G", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000452972.1:n.380G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS301868" }, { "coordinates": [ { "allele": "A", "end": 376, "endIntronDirection": "+", "endIntronOffset": 116, "referenceAllele": "G", "start": 376, "startIntronDirection": "+", "startIntronOffset": 115 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000471636.5:n.376+116G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS313783" }, { "coordinates": [ { "allele": "A", "end": 342, "referenceAllele": "G", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000479641.5:n.342G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319966" }, { "@id": "http://reg.genome.network/allele/PA2825265719", "coordinates": [ { "allele": "A", "end": 552, "referenceAllele": "G", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.1:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Arg139His", "hgvsWellDefined": "NP_001004426.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS007462" }, { "@id": "http://reg.genome.network/allele/PA2826244306", "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "G", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.1:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Arg139His", "hgvsWellDefined": "NP_001186491.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS017130" }, { "@id": "http://reg.genome.network/allele/PA645492002", "coordinates": [ { "allele": "A", "end": 552, "referenceAllele": "G", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Arg139His", "hgvsWellDefined": "NP_003551.2:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS028794" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261764.1:c.416G>A" ], "proteinEffect": { "hgvs": "XP_005261821.1:p.Arg139His", "hgvsWellDefined": "XP_005261821.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS063212" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261765.1:c.416G>A" ], "proteinEffect": { "hgvs": "XP_005261822.1:p.Arg139His", "hgvsWellDefined": "XP_005261822.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS063213" }, { "coordinates": [ { "allele": "A", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261766.1:c.416G>A" ], "proteinEffect": { "hgvs": "XP_005261823.1:p.Arg139His", "hgvsWellDefined": "XP_005261823.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS063214" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261771.3:c.416G>A" ], "proteinEffect": { "hgvs": "XP_005261828.1:p.Arg139His", "hgvsWellDefined": "XP_005261828.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS063215" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "G", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_006724332.2:c.416G>A" ], "proteinEffect": { "hgvs": "XP_006724395.1:p.Arg139His", "hgvsWellDefined": "XP_006724395.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS075479" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530422.1:c.416G>A" ], "proteinEffect": { "hgvs": "XP_011528724.1:p.Arg139His", "hgvsWellDefined": "XP_011528724.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS097479" }, { "coordinates": [ { "allele": "A", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530423.1:c.-119G>A" ], "proteinEffect": { "hgvs": "XP_011528725.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS097480" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "G", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530424.1:c.-119G>A" ], "proteinEffect": { "hgvs": "XP_011528726.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS097481" }, { "coordinates": [ { "allele": "A", "end": 380, "referenceAllele": "G", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530425.1:c.-202G>A" ], "proteinEffect": { "hgvs": "XP_011528727.1:n.-202G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS097482" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530426.1:c.416G>A" ], "proteinEffect": { "hgvs": "XP_011528728.1:p.Arg139His", "hgvsWellDefined": "XP_011528728.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS097483" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530427.1:c.416G>A" ], "proteinEffect": { "hgvs": "XP_011528729.1:p.Arg139His", "hgvsWellDefined": "XP_011528729.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS097484" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530428.1:c.416G>A" ], "proteinEffect": { "hgvs": "XP_011528730.1:p.Arg139His", "hgvsWellDefined": "XP_011528730.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS097485" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244390.1:n.524G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116743" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244392.1:n.524G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116744" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_430411.1:n.524G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118692" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_430412.1:n.524G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118693" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937937.1:n.524G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132696" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937938.1:n.524G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132697" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937939.1:n.524G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132698" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937940.1:n.524G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS132699" }, { "@id": "http://reg.genome.network/allele/PA2825265719", "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Arg139His", "hgvsWellDefined": "NP_001004426.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS510928" }, { "@id": "http://reg.genome.network/allele/PA2826244306", "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "G", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Arg139His", "hgvsWellDefined": "NP_001186491.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511837" }, { "@id": "http://reg.genome.network/allele/PA2827515540", "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "G", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349864.1:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001336793.1:p.Arg139His", "hgvsWellDefined": "NP_001336793.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS518982" }, { "@id": "http://reg.genome.network/allele/PA2827516193", "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "G", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349865.1:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001336794.1:p.Arg139His", "hgvsWellDefined": "NP_001336794.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS518983" }, { "@id": "http://reg.genome.network/allele/PA2827516809", "coordinates": [ { "allele": "A", "end": 583, "referenceAllele": "G", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349866.1:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001336795.1:p.Arg139His", "hgvsWellDefined": "NP_001336795.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS518984" }, { "coordinates": [ { "allele": "A", "end": 718, "referenceAllele": "G", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349867.1:c.-119G>A" ], "proteinEffect": { "hgvs": "NP_001336796.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS518985" }, { "coordinates": [ { "allele": "A", "end": 583, "referenceAllele": "G", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349868.1:c.-75G>A" ], "proteinEffect": { "hgvs": "NP_001336797.1:n.-75G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS518986" }, { "coordinates": [ { "allele": "A", "end": 718, "referenceAllele": "G", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349869.1:c.-119G>A" ], "proteinEffect": { "hgvs": "NP_001336798.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS518987" }, { "@id": "http://reg.genome.network/allele/PA645492002", "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.3:c.416G>A" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Arg139His", "hgvsWellDefined": "NP_003551.2:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS525111" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261764.3:c.416G>A" ], "proteinEffect": { "hgvs": "XP_005261821.1:p.Arg139His", "hgvsWellDefined": "XP_005261821.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS535363" }, { "coordinates": [ { "allele": "A", "end": 504, "referenceAllele": "G", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261765.2:c.416G>A" ], "proteinEffect": { "hgvs": "XP_005261822.1:p.Arg139His", "hgvsWellDefined": "XP_005261822.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS535364" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_006724332.4:c.416G>A" ], "proteinEffect": { "hgvs": "XP_006724395.1:p.Arg139His", "hgvsWellDefined": "XP_006724395.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS540956" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530426.3:c.416G>A" ], "proteinEffect": { "hgvs": "XP_011528728.1:p.Arg139His", "hgvsWellDefined": "XP_011528728.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS549971" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "G", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028983.1:c.-119G>A" ], "proteinEffect": { "hgvs": "XP_016884472.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS578612" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028986.2:c.416G>A" ], "proteinEffect": { "hgvs": "XP_016884475.1:p.Arg139His", "hgvsWellDefined": "XP_016884475.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS578613" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028987.2:c.416G>A" ], "proteinEffect": { "hgvs": "XP_016884476.1:p.Arg139His", "hgvsWellDefined": "XP_016884476.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS578614" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028988.2:c.416G>A" ], "proteinEffect": { "hgvs": "XP_016884477.1:p.Arg139His", "hgvsWellDefined": "XP_016884477.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS578615" }, { "coordinates": [ { "allele": "A", "end": 698, "referenceAllele": "G", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452280.1:c.-119G>A" ], "proteinEffect": { "hgvs": "XP_024308048.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585777" }, { "coordinates": [ { "allele": "A", "end": 625, "referenceAllele": "G", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452281.1:c.-119G>A" ], "proteinEffect": { "hgvs": "XP_024308049.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585778" }, { "coordinates": [ { "allele": "A", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452282.1:c.-119G>A" ], "proteinEffect": { "hgvs": "XP_024308050.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585779" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452283.1:c.-75G>A" ], "proteinEffect": { "hgvs": "XP_024308051.1:n.-75G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585780" }, { "coordinates": [ { "allele": "A", "end": 694, "referenceAllele": "G", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452284.1:c.-119G>A" ], "proteinEffect": { "hgvs": "XP_024308052.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585781" }, { "coordinates": [ { "allele": "A", "end": 625, "referenceAllele": "G", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452285.1:c.-119G>A" ], "proteinEffect": { "hgvs": "XP_024308053.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585782" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755325.2:n.508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS601102" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755327.2:n.508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS601103" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755328.2:n.508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS601104" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244390.3:n.508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606091" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937938.3:n.508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS611758" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937939.3:n.508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS611759" }, { "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937940.3:n.508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS611760" }, { "@id": "http://reg.genome.network/allele/PA2826244306", "coordinates": [ { "allele": "A", "end": 508, "referenceAllele": "G", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.3:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Arg139His", "hgvsWellDefined": "NP_001186491.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS679576" }, { "@id": "http://reg.genome.network/allele/PA2827515540", "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "G", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349864.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001336793.1:p.Arg139His", "hgvsWellDefined": "NP_001336793.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS688118" }, { "@id": "http://reg.genome.network/allele/PA2827516193", "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "G", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349865.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001336794.1:p.Arg139His", "hgvsWellDefined": "NP_001336794.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS688119" }, { "@id": "http://reg.genome.network/allele/PA2827516809", "coordinates": [ { "allele": "A", "end": 504, "referenceAllele": "G", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349866.2:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001336795.1:p.Arg139His", "hgvsWellDefined": "NP_001336795.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS688120" }, { "coordinates": [ { "allele": "A", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349867.2:c.-119G>A" ], "proteinEffect": { "hgvs": "NP_001336796.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS688121" }, { "coordinates": [ { "allele": "A", "end": 504, "referenceAllele": "G", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349868.2:c.-75G>A" ], "proteinEffect": { "hgvs": "NP_001336797.1:n.-75G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS688122" }, { "coordinates": [ { "allele": "A", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349869.2:c.-119G>A" ], "proteinEffect": { "hgvs": "NP_001336798.1:n.-119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS688123" }, { "@id": "http://reg.genome.network/allele/PA645492002", "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.4:c.416G>A" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Arg139His", "hgvsWellDefined": "NP_003551.2:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS695893", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000332509.8:c.416G>A" }, "RefSeq": { "hgvs": "NM_003560.4:c.416G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000333142.3:p.Arg139His" }, "RefSeq": { "hgvs": "NP_003551.2:p.Arg139His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825265719", "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.3:c.416G>A" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Arg139His", "hgvsWellDefined": "NP_001004426.1:p.Arg139His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711038" } ], "type": "nucleotide" }