{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8242352", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.3467G>A (p.Arg1156Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=919688[alleleid]", "alleleId": 919688, "preferredName": "NM_013275.6(ANKRD11):c.3467G>A (p.Arg1156Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/931173", "RCV": [ "RCV001197512" ], "variationId": 931173 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-89349483-C-T", "id": "16-89349483-C-T", "variant": "16:89349483 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89349483C>T?assembly=hg19", "id": "chr16:g.89349483C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89283075C>T?assembly=hg38", "id": "chr16:g.89283075C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/775910970", "rs": 775910970 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89349483-C-T?dataset=gnomad_r2_1", "id": "16-89349483-C-T", "variant": "16:89349483 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89283075-C-T?dataset=gnomad_r3", "id": "16-89283075-C-T", "variant": "16:89283075 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89283075-C-T?dataset=gnomad_r4", "id": "16-89283075-C-T", "variant": "16:89283075 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89283075, "referenceAllele": "C", "start": 89283074 } ], "hgvs": [ "NC_000016.10:g.89283075C>T", "CM000678.2:g.89283075C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89349483, "referenceAllele": "C", "start": 89349482 } ], "hgvs": [ "NC_000016.9:g.89349483C>T", "CM000678.1:g.89349483C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 87876984, "referenceAllele": "C", "start": 87876983 } ], "hgvs": [ "NC_000016.8:g.87876984C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 212487, "referenceAllele": "G", "start": 212486 } ], "hgvs": [ "NG_032003.1:g.212487G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005088" }, { "coordinates": [ { "allele": "A", "end": 212487, "referenceAllele": "G", "start": 212486 } ], "hgvs": [ "NG_032003.2:g.212487G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673857" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3928, "referenceAllele": "G", "start": 3927 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.10:c.3467G>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Arg1156Gln", "hgvsWellDefined": "ENSP00000301030.4:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS744803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.3467G>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.3467G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Arg1156Gln" }, "RefSeq": { "hgvs": "NP_037407.4:p.Arg1156Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 3780, "referenceAllele": "G", "start": 3779 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.10:c.*3270G>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*3270G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS747095" }, { "coordinates": [ { "allele": "A", "end": 3758, "referenceAllele": "G", "start": 3757 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.7:c.3467G>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Arg1156Gln", "hgvsWellDefined": "ENSP00000367581.2:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS752067" }, { "coordinates": [ { "allele": "A", "end": 3843, "referenceAllele": "G", "start": 3842 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000642600.1:c.3467G>A" ], "proteinEffect": { "hgvs": "ENSP00000495226.1:p.Arg1156Gln", "hgvsWellDefined": "ENSP00000495226.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766832" }, { "coordinates": [ { "allele": "A", "end": 744, "endIntronDirection": "+", "endIntronOffset": 5453, "referenceAllele": "G", "start": 744, "startIntronDirection": "+", "startIntronOffset": 5452 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000644285.1:c.744+5453G>A" ], "proteinEffect": { "hgvs": "ENSP00000496476.1:n.744+5453G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767741" }, { "coordinates": [ { "allele": "A", "end": 3928, "referenceAllele": "G", "start": 3927 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.8:c.3467G>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Arg1156Gln", "hgvsWellDefined": "ENSP00000301030.4:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "A", "end": 3687, "referenceAllele": "G", "start": 3686 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*3270G>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*3270G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "A", "end": 3756, "referenceAllele": "G", "start": 3755 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.3467G>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Arg1156Gln", "hgvsWellDefined": "ENSP00000367581.2:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "A", "end": 151, "endIntronDirection": "+", "endIntronOffset": 5453, "referenceAllele": "G", "start": 151, "startIntronDirection": "+", "startIntronOffset": 5452 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.151+5453G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA2826373576", "coordinates": [ { "allele": "A", "end": 3999, "referenceAllele": "G", "start": 3998 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.3467G>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Arg1156Gln", "hgvsWellDefined": "NP_001243111.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826375423", "coordinates": [ { "allele": "A", "end": 3925, "referenceAllele": "G", "start": 3924 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.3467G>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Arg1156Gln", "hgvsWellDefined": "NP_001243112.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA1139725024", "coordinates": [ { "allele": "A", "end": 3928, "referenceAllele": "G", "start": 3927 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.3467G>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Arg1156Gln", "hgvsWellDefined": "NP_037407.4:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "A", "end": 3705, "referenceAllele": "G", "start": 3704 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.3365G>A" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Arg1122Gln", "hgvsWellDefined": "XP_006721244.1:p.Arg1122Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "A", "end": 3743, "referenceAllele": "G", "start": 3742 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.3170G>A" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Arg1057Gln", "hgvsWellDefined": "XP_006721247.1:p.Arg1057Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "A", "end": 3985, "referenceAllele": "G", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Arg1156Gln", "hgvsWellDefined": "XP_011521353.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "A", "end": 3690, "referenceAllele": "G", "start": 3689 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Arg1156Gln", "hgvsWellDefined": "XP_011521354.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "A", "end": 4123, "referenceAllele": "G", "start": 4122 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Arg1156Gln", "hgvsWellDefined": "XP_011521355.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "A", "end": 4038, "referenceAllele": "G", "start": 4037 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.3365G>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Arg1122Gln", "hgvsWellDefined": "XP_011521356.1:p.Arg1122Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "A", "end": 4311, "referenceAllele": "G", "start": 4310 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.3365G>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Arg1122Gln", "hgvsWellDefined": "XP_011521357.1:p.Arg1122Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "A", "end": 4060, "referenceAllele": "G", "start": 4059 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.3338G>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Arg1113Gln", "hgvsWellDefined": "XP_011521358.1:p.Arg1113Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "A", "end": 3940, "referenceAllele": "G", "start": 3939 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Arg1156Gln", "hgvsWellDefined": "XP_011521359.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "A", "end": 3989, "referenceAllele": "G", "start": 3988 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Arg1156Gln", "hgvsWellDefined": "XP_011521353.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "A", "end": 4094, "referenceAllele": "G", "start": 4093 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Arg1156Gln", "hgvsWellDefined": "XP_011521355.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "A", "end": 4008, "referenceAllele": "G", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.3365G>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Arg1122Gln", "hgvsWellDefined": "XP_011521356.1:p.Arg1122Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "A", "end": 4293, "referenceAllele": "G", "start": 4292 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.3365G>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Arg1122Gln", "hgvsWellDefined": "XP_011521357.1:p.Arg1122Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "A", "end": 4030, "referenceAllele": "G", "start": 4029 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.3338G>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Arg1113Gln", "hgvsWellDefined": "XP_011521358.1:p.Arg1113Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "A", "end": 3911, "referenceAllele": "G", "start": 3910 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Arg1156Gln", "hgvsWellDefined": "XP_011521359.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "A", "end": 4475, "referenceAllele": "G", "start": 4474 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Arg1156Gln", "hgvsWellDefined": "XP_016878671.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "A", "end": 4097, "referenceAllele": "G", "start": 4096 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Arg1156Gln", "hgvsWellDefined": "XP_016878672.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "A", "end": 4094, "referenceAllele": "G", "start": 4093 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Arg1156Gln", "hgvsWellDefined": "XP_016878673.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "A", "end": 3735, "referenceAllele": "G", "start": 3734 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Arg1156Gln", "hgvsWellDefined": "XP_016878674.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "A", "end": 4471, "referenceAllele": "G", "start": 4470 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Arg1156Gln", "hgvsWellDefined": "XP_016878675.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "A", "end": 3823, "referenceAllele": "G", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.3467G>A" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Arg1156Gln", "hgvsWellDefined": "XP_016878676.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "A", "end": 4005, "referenceAllele": "G", "start": 4004 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.3365G>A" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Arg1122Gln", "hgvsWellDefined": "XP_024306012.1:p.Arg1122Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA1139725024", "coordinates": [ { "allele": "A", "end": 3928, "referenceAllele": "G", "start": 3927 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.3467G>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Arg1156Gln", "hgvsWellDefined": "NP_037407.4:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.3467G>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.3467G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Arg1156Gln" }, "RefSeq": { "hgvs": "NP_037407.4:p.Arg1156Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2826373576", "coordinates": [ { "allele": "A", "end": 3999, "referenceAllele": "G", "start": 3998 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.3467G>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Arg1156Gln", "hgvsWellDefined": "NP_001243111.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826375423", "coordinates": [ { "allele": "A", "end": 3925, "referenceAllele": "G", "start": 3924 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.3467G>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Arg1156Gln", "hgvsWellDefined": "NP_001243112.1:p.Arg1156Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }