{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1494765", "communityStandardTitle": [ "NM_001243133.2(NLRP3):c.220G>A (p.Ala74Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1067161[alleleid]", "alleleId": 1067161, "preferredName": "NM_001243133.2(NLRP3):c.220G>A (p.Ala74Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1077243", "RCV": [ "RCV001391766", "RCV004531201" ], "variationId": 1077243 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-247582322-G-A", "id": "1-247582322-G-A", "variant": "1:247582322 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.247582322G>A?assembly=hg19", "id": "chr1:g.247582322G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.247419020G>A?assembly=hg38", "id": "chr1:g.247419020G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/537715421", "rs": 537715421 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-247582322-G-A?dataset=gnomad_r2_1", "id": "1-247582322-G-A", "variant": "1:247582322 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-247419020-G-A?dataset=gnomad_r3", "id": "1-247419020-G-A", "variant": "1:247419020 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-247419020-G-A?dataset=gnomad_r4", "id": "1-247419020-G-A", "variant": "1:247419020 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 247419020, "referenceAllele": "G", "start": 247419019 } ], "hgvs": [ "NC_000001.11:g.247419020G>A", "CM000663.2:g.247419020G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 247582322, "referenceAllele": "G", "start": 247582321 } ], "hgvs": [ "NC_000001.10:g.247582322G>A", "CM000663.1:g.247582322G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 245648945, "referenceAllele": "G", "start": 245648944 } ], "hgvs": [ "NC_000001.9:g.245648945G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 7848, "referenceAllele": "G", "start": 7847 } ], "hgvs": [ "NG_007509.2:g.7848G>A", "LRG_197:g.7848G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000629" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000697350.1:c.220G>A" ], "proteinEffect": { "hgvs": "ENSP00000513275.1:p.Ala74Thr", "hgvsWellDefined": "ENSP00000513275.1:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS908721" }, { "coordinates": [ { "allele": "A", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000336119.8:c.220G>A" ], "proteinEffect": { "hgvs": "ENSP00000337383.4:p.Ala74Thr", "hgvsWellDefined": "ENSP00000337383.4:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS747550", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000336119.8:c.220G>A" }, "RefSeq": { "hgvs": "NM_001243133.2:c.220G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000337383.4:p.Ala74Thr" }, "RefSeq": { "hgvs": "NP_001230062.1:p.Ala74Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 968, "referenceAllele": "G", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000348069.7:c.220G>A" ], "proteinEffect": { "hgvs": "ENSP00000294752.4:p.Ala74Thr", "hgvsWellDefined": "ENSP00000294752.4:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS748355" }, { "coordinates": [ { "allele": "A", "end": 968, "referenceAllele": "G", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000366496.7:c.220G>A" ], "proteinEffect": { "hgvs": "ENSP00000355452.3:p.Ala74Thr", "hgvsWellDefined": "ENSP00000355452.3:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS749794" }, { "coordinates": [ { "allele": "A", "end": 990, "referenceAllele": "G", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391827.3:c.220G>A" ], "proteinEffect": { "hgvs": "ENSP00000375703.3:p.Ala74Thr", "hgvsWellDefined": "ENSP00000375703.3:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS752934" }, { "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "G", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391828.8:c.220G>A" ], "proteinEffect": { "hgvs": "ENSP00000375704.4:p.Ala74Thr", "hgvsWellDefined": "ENSP00000375704.4:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS752935" }, { "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "G", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000474792.2:c.220G>A" ], "proteinEffect": { "hgvs": "ENSP00000493937.2:p.Ala74Thr", "hgvsWellDefined": "ENSP00000493937.2:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS757129" }, { "coordinates": [ { "allele": "A", "end": 85, "referenceAllele": "G", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000642259.1:c.85G>A" ], "proteinEffect": { "hgvs": "ENSP00000494332.1:p.Ala29Thr", "hgvsWellDefined": "ENSP00000494332.1:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS766644" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000643234.2:c.220G>A" ], "proteinEffect": { "hgvs": "ENSP00000493674.2:p.Ala74Thr", "hgvsWellDefined": "ENSP00000493674.2:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS767166" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000336119.7:c.226G>A" ], "proteinEffect": { "hgvs": "ENSP00000337383.3:p.Ala76Thr", "hgvsWellDefined": "ENSP00000337383.3:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS260252" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000348069.6:c.226G>A" ], "proteinEffect": { "hgvs": "ENSP00000294752.3:p.Ala76Thr", "hgvsWellDefined": "ENSP00000294752.3:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS262434" }, { "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "G", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000366496.6:c.226G>A" ], "proteinEffect": { "hgvs": "ENSP00000355452.2:p.Ala76Thr", "hgvsWellDefined": "ENSP00000355452.2:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS265853" }, { "coordinates": [ { "allele": "A", "end": 1006, "referenceAllele": "G", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000366497.6:c.226G>A" ], "proteinEffect": { "hgvs": "ENSP00000355453.2:p.Ala76Thr", "hgvsWellDefined": "ENSP00000355453.2:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS265854" }, { "coordinates": [ { "allele": "A", "end": 226, "referenceAllele": "G", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391827.2:c.226G>A" ], "proteinEffect": { "hgvs": "ENSP00000375703.2:p.Ala76Thr", "hgvsWellDefined": "ENSP00000375703.2:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS274779" }, { "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "G", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391828.7:c.226G>A" ], "proteinEffect": { "hgvs": "ENSP00000375704.3:p.Ala76Thr", "hgvsWellDefined": "ENSP00000375704.3:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS274780" }, { "coordinates": [ { "allele": "A", "end": 401, "referenceAllele": "G", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000474792.1:n.401G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316220" }, { "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "G", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001079821.2:c.226G>A" ], "proteinEffect": { "hgvs": "NP_001073289.1:p.Ala76Thr", "hgvsWellDefined": "NP_001073289.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010102" }, { "coordinates": [ { "allele": "A", "end": 1006, "referenceAllele": "G", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127461.2:c.226G>A" ], "proteinEffect": { "hgvs": "NP_001120933.1:p.Ala76Thr", "hgvsWellDefined": "NP_001120933.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011621" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127462.2:c.226G>A" ], "proteinEffect": { "hgvs": "NP_001120934.1:p.Ala76Thr", "hgvsWellDefined": "NP_001120934.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011622" }, { "@id": "http://reg.genome.network/allele/PA2826315724", "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001243133.1:c.220G>A" ], "proteinEffect": { "hgvs": "NP_001230062.1:p.Ala74Thr", "hgvsWellDefined": "NP_001230062.1:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS018417" }, { "@id": "http://reg.genome.network/allele/PA2499269202", "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_004895.4:c.226G>A", "LRG_197t1:c.226G>A" ], "proteinEffect": { "hgvs": "NP_004886.3:p.Ala76Thr", "hgvsWellDefined": "NP_004886.3:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS030035" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_183395.2:c.226G>A" ], "proteinEffect": { "hgvs": "NP_899632.1:p.Ala76Thr", "hgvsWellDefined": "NP_899632.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS044275" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "G", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_005273036.2:c.226G>A" ], "proteinEffect": { "hgvs": "XP_005273093.1:p.Ala76Thr", "hgvsWellDefined": "XP_005273093.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS067427" }, { "coordinates": [ { "allele": "A", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_005273037.2:c.226G>A" ], "proteinEffect": { "hgvs": "XP_005273094.1:p.Ala76Thr", "hgvsWellDefined": "XP_005273094.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS067428" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544048.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_011542350.1:p.Ala76Thr", "hgvsWellDefined": "XP_011542350.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS110961" }, { "coordinates": [ { "allele": "A", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544049.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_011542351.1:p.Ala76Thr", "hgvsWellDefined": "XP_011542351.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS110962" }, { "coordinates": [ { "allele": "A", "end": 1605, "referenceAllele": "G", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544050.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_011542352.1:p.Ala76Thr", "hgvsWellDefined": "XP_011542352.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS110963" }, { "coordinates": [ { "allele": "A", "end": 608, "referenceAllele": "G", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544051.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_011542353.1:p.Ala76Thr", "hgvsWellDefined": "XP_011542353.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS110964" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544052.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_011542354.1:p.Ala76Thr", "hgvsWellDefined": "XP_011542354.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS110965" }, { "coordinates": [ { "allele": "A", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544053.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_011542355.1:p.Ala76Thr", "hgvsWellDefined": "XP_011542355.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS110966" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544054.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_011542356.1:p.Ala76Thr", "hgvsWellDefined": "XP_011542356.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS110967" }, { "coordinates": [ { "allele": "A", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544055.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_011542357.1:p.Ala76Thr", "hgvsWellDefined": "XP_011542357.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS110968" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544048.2:c.226G>A" ], "proteinEffect": { "hgvs": "XP_011542350.1:p.Ala76Thr", "hgvsWellDefined": "XP_011542350.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS555487" }, { "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "G", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000181.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_016855670.1:p.Ala76Thr", "hgvsWellDefined": "XP_016855670.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS556591" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000182.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_016855671.1:p.Ala76Thr", "hgvsWellDefined": "XP_016855671.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS556592" }, { "coordinates": [ { "allele": "A", "end": 999, "referenceAllele": "G", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000183.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_016855672.1:p.Ala76Thr", "hgvsWellDefined": "XP_016855672.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS556593" }, { "coordinates": [ { "allele": "A", "end": 999, "referenceAllele": "G", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000184.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_016855673.1:p.Ala76Thr", "hgvsWellDefined": "XP_016855673.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS556594" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_024452862.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_024308630.1:p.Ala76Thr", "hgvsWellDefined": "XP_024308630.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586250" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "G", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_024452874.1:c.226G>A" ], "proteinEffect": { "hgvs": "XP_024308642.1:p.Ala76Thr", "hgvsWellDefined": "XP_024308642.1:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS586262" }, { "@id": "http://reg.genome.network/allele/PA2825448788", "coordinates": [ { "allele": "A", "end": 347, "referenceAllele": "G", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001079821.3:c.220G>A" ], "proteinEffect": { "hgvs": "NP_001073289.2:p.Ala74Thr", "hgvsWellDefined": "NP_001073289.2:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676225" }, { "@id": "http://reg.genome.network/allele/PA2825608029", "coordinates": [ { "allele": "A", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127461.3:c.220G>A" ], "proteinEffect": { "hgvs": "NP_001120933.2:p.Ala74Thr", "hgvsWellDefined": "NP_001120933.2:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676895" }, { "@id": "http://reg.genome.network/allele/PA2825608972", "coordinates": [ { "allele": "A", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127462.3:c.220G>A" ], "proteinEffect": { "hgvs": "NP_001120934.2:p.Ala74Thr", "hgvsWellDefined": "NP_001120934.2:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676896" }, { "@id": "http://reg.genome.network/allele/PA2826315724", "coordinates": [ { "allele": "A", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001243133.2:c.220G>A" ], "proteinEffect": { "hgvs": "NP_001230062.1:p.Ala74Thr", "hgvsWellDefined": "NP_001230062.1:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS680181", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000336119.8:c.220G>A" }, "RefSeq": { "hgvs": "NM_001243133.2:c.220G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000337383.4:p.Ala74Thr" }, "RefSeq": { "hgvs": "NP_001230062.1:p.Ala74Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2499269202", "coordinates": [ { "allele": "A", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_004895.5:c.226G>A" ], "proteinEffect": { "hgvs": "NP_004886.3:p.Ala76Thr", "hgvsWellDefined": "NP_004886.3:p.Ala76Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS696268" }, { "@id": "http://reg.genome.network/allele/PA2830417422", "coordinates": [ { "allele": "A", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_183395.3:c.220G>A" ], "proteinEffect": { "hgvs": "NP_899632.2:p.Ala74Thr", "hgvsWellDefined": "NP_899632.2:p.Ala74Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS701178" } ], "type": "nucleotide" }