{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397157202", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.4608C>A (p.Asp1536Glu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2031478[alleleid]", "alleleId": 2031478, "preferredName": "NM_013275.6(ANKRD11):c.4608C>A (p.Asp1536Glu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1966312", "RCV": [ "RCV002716477" ], "variationId": 1966312 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89348342G>T?assembly=hg19", "id": "chr16:g.89348342G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89281934G>T?assembly=hg38", "id": "chr16:g.89281934G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/759416890", "rs": 759416890 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89348342-G-T?dataset=gnomad_r2_1", "id": "16-89348342-G-T", "variant": "16:89348342 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89281934-G-T?dataset=gnomad_r3", "id": "16-89281934-G-T", "variant": "16:89281934 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89281934-G-T?dataset=gnomad_r4", "id": "16-89281934-G-T", "variant": "16:89281934 G / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89281934, "referenceAllele": "G", "start": 89281933 } ], "hgvs": [ "NC_000016.10:g.89281934G>T", "CM000678.2:g.89281934G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89348342, "referenceAllele": "G", "start": 89348341 } ], "hgvs": [ "NC_000016.9:g.89348342G>T", "CM000678.1:g.89348342G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 87875843, "referenceAllele": "G", "start": 87875842 } ], "hgvs": [ "NC_000016.8:g.87875843G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 213628, "referenceAllele": "C", "start": 213627 } ], "hgvs": [ "NG_032003.1:g.213628C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005088" }, { "coordinates": [ { "allele": "A", "end": 213628, "referenceAllele": "C", "start": 213627 } ], "hgvs": [ "NG_032003.2:g.213628C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673857" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5069, "referenceAllele": "C", "start": 5068 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.10:c.4608C>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Asp1536Glu", "hgvsWellDefined": "ENSP00000301030.4:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS744803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.4608C>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.4608C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Asp1536Glu" }, "RefSeq": { "hgvs": "NP_037407.4:p.Asp1536Glu" } } } }, { "coordinates": [ { "allele": "A", "end": 4921, "referenceAllele": "C", "start": 4920 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.10:c.*4411C>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*4411C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS747095" }, { "coordinates": [ { "allele": "A", "end": 4899, "referenceAllele": "C", "start": 4898 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.7:c.4608C>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Asp1536Glu", "hgvsWellDefined": "ENSP00000367581.2:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS752067" }, { "coordinates": [ { "allele": "A", "end": 4984, "referenceAllele": "C", "start": 4983 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000642600.1:c.4608C>A" ], "proteinEffect": { "hgvs": "ENSP00000495226.1:p.Asp1536Glu", "hgvsWellDefined": "ENSP00000495226.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS766832" }, { "coordinates": [ { "allele": "A", "end": 744, "endIntronDirection": "+", "endIntronOffset": 6594, "referenceAllele": "C", "start": 744, "startIntronDirection": "+", "startIntronOffset": 6593 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000644285.1:c.744+6594C>A" ], "proteinEffect": { "hgvs": "ENSP00000496476.1:n.744+6594C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767741" }, { "coordinates": [ { "allele": "A", "end": 5069, "referenceAllele": "C", "start": 5068 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.8:c.4608C>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Asp1536Glu", "hgvsWellDefined": "ENSP00000301030.4:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "A", "end": 4828, "referenceAllele": "C", "start": 4827 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*4411C>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*4411C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "A", "end": 4897, "referenceAllele": "C", "start": 4896 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.4608C>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Asp1536Glu", "hgvsWellDefined": "ENSP00000367581.2:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "A", "end": 151, "endIntronDirection": "+", "endIntronOffset": 6594, "referenceAllele": "C", "start": 151, "startIntronDirection": "+", "startIntronOffset": 6593 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.151+6594C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA2826373814", "coordinates": [ { "allele": "A", "end": 5140, "referenceAllele": "C", "start": 5139 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.4608C>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Asp1536Glu", "hgvsWellDefined": "NP_001243111.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826375664", "coordinates": [ { "allele": "A", "end": 5066, "referenceAllele": "C", "start": 5065 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.4608C>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Asp1536Glu", "hgvsWellDefined": "NP_001243112.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA2580356935", "coordinates": [ { "allele": "A", "end": 5069, "referenceAllele": "C", "start": 5068 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.4608C>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Asp1536Glu", "hgvsWellDefined": "NP_037407.4:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "A", "end": 4846, "referenceAllele": "C", "start": 4845 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.4506C>A" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Asp1502Glu", "hgvsWellDefined": "XP_006721244.1:p.Asp1502Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "A", "end": 4884, "referenceAllele": "C", "start": 4883 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.4311C>A" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Asp1437Glu", "hgvsWellDefined": "XP_006721247.1:p.Asp1437Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "A", "end": 5126, "referenceAllele": "C", "start": 5125 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Asp1536Glu", "hgvsWellDefined": "XP_011521353.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "A", "end": 4831, "referenceAllele": "C", "start": 4830 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Asp1536Glu", "hgvsWellDefined": "XP_011521354.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "A", "end": 5264, "referenceAllele": "C", "start": 5263 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Asp1536Glu", "hgvsWellDefined": "XP_011521355.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "A", "end": 5179, "referenceAllele": "C", "start": 5178 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.4506C>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Asp1502Glu", "hgvsWellDefined": "XP_011521356.1:p.Asp1502Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "A", "end": 5452, "referenceAllele": "C", "start": 5451 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.4506C>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Asp1502Glu", "hgvsWellDefined": "XP_011521357.1:p.Asp1502Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "A", "end": 5201, "referenceAllele": "C", "start": 5200 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.4479C>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Asp1493Glu", "hgvsWellDefined": "XP_011521358.1:p.Asp1493Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "A", "end": 5081, "referenceAllele": "C", "start": 5080 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Asp1536Glu", "hgvsWellDefined": "XP_011521359.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "A", "end": 5130, "referenceAllele": "C", "start": 5129 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Asp1536Glu", "hgvsWellDefined": "XP_011521353.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "A", "end": 5235, "referenceAllele": "C", "start": 5234 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Asp1536Glu", "hgvsWellDefined": "XP_011521355.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "A", "end": 5149, "referenceAllele": "C", "start": 5148 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.4506C>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Asp1502Glu", "hgvsWellDefined": "XP_011521356.1:p.Asp1502Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "A", "end": 5434, "referenceAllele": "C", "start": 5433 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.4506C>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Asp1502Glu", "hgvsWellDefined": "XP_011521357.1:p.Asp1502Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "A", "end": 5171, "referenceAllele": "C", "start": 5170 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.4479C>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Asp1493Glu", "hgvsWellDefined": "XP_011521358.1:p.Asp1493Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "A", "end": 5052, "referenceAllele": "C", "start": 5051 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Asp1536Glu", "hgvsWellDefined": "XP_011521359.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "A", "end": 5616, "referenceAllele": "C", "start": 5615 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Asp1536Glu", "hgvsWellDefined": "XP_016878671.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "A", "end": 5238, "referenceAllele": "C", "start": 5237 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Asp1536Glu", "hgvsWellDefined": "XP_016878672.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "A", "end": 5235, "referenceAllele": "C", "start": 5234 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Asp1536Glu", "hgvsWellDefined": "XP_016878673.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "A", "end": 4876, "referenceAllele": "C", "start": 4875 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Asp1536Glu", "hgvsWellDefined": "XP_016878674.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "A", "end": 5612, "referenceAllele": "C", "start": 5611 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Asp1536Glu", "hgvsWellDefined": "XP_016878675.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "A", "end": 4964, "referenceAllele": "C", "start": 4963 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.4608C>A" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Asp1536Glu", "hgvsWellDefined": "XP_016878676.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "A", "end": 5146, "referenceAllele": "C", "start": 5145 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.4506C>A" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Asp1502Glu", "hgvsWellDefined": "XP_024306012.1:p.Asp1502Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA2580356935", "coordinates": [ { "allele": "A", "end": 5069, "referenceAllele": "C", "start": 5068 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.4608C>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Asp1536Glu", "hgvsWellDefined": "NP_037407.4:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.4608C>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.4608C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Asp1536Glu" }, "RefSeq": { "hgvs": "NP_037407.4:p.Asp1536Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA2826373814", "coordinates": [ { "allele": "A", "end": 5140, "referenceAllele": "C", "start": 5139 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.4608C>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Asp1536Glu", "hgvsWellDefined": "NP_001243111.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826375664", "coordinates": [ { "allele": "A", "end": 5066, "referenceAllele": "C", "start": 5065 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.4608C>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Asp1536Glu", "hgvsWellDefined": "NP_001243112.1:p.Asp1536Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }