{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3274446", "communityStandardTitle": [ "NM_022913.4(GPBP1):c.736G>A (p.Val246Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2296805[alleleid]", "alleleId": 2296805, "preferredName": "NM_022913.4(GPBP1):c.736G>A (p.Val246Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2303566", "RCV": [ "RCV004148697" ], "variationId": 2303566 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-56542974-G-A", "id": "5-56542974-G-A", "variant": "5:56542974 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.56542974G>A?assembly=hg19", "id": "chr5:g.56542974G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.57247147G>A?assembly=hg38", "id": "chr5:g.57247147G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/140303871", "rs": 140303871 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-56542974-G-A?dataset=gnomad_r2_1", "id": "5-56542974-G-A", "variant": "5:56542974 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-57247147-G-A?dataset=gnomad_r3", "id": "5-57247147-G-A", "variant": "5:57247147 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-57247147-G-A?dataset=gnomad_r4", "id": "5-57247147-G-A", "variant": "5:57247147 G / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 57247147, "referenceAllele": "G", "start": 57247146 } ], "hgvs": [ "NC_000005.10:g.57247147G>A", "CM000667.2:g.57247147G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 56542974, "referenceAllele": "G", "start": 56542973 } ], "hgvs": [ "NC_000005.9:g.56542974G>A", "CM000667.1:g.56542974G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 56578731, "referenceAllele": "G", "start": 56578730 } ], "hgvs": [ "NC_000005.8:g.56578731G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 78200, "referenceAllele": "G", "start": 78199 } ], "hgvs": [ "NG_029503.1:g.78200G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004442" }, { "coordinates": [ { "allele": "A", "end": 78200, "referenceAllele": "G", "start": 78199 } ], "hgvs": [ "NG_029503.2:g.78200G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673788" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1899, "referenceAllele": "G", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000506184.7:c.736G>A" ], "proteinEffect": { "hgvs": "ENSP00000421202.2:p.Val246Ile", "hgvsWellDefined": "ENSP00000421202.2:p.Val246Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS758074", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000506184.7:c.736G>A" }, "RefSeq": { "hgvs": "NM_022913.4:c.736G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000421202.2:p.Val246Ile" }, "RefSeq": { "hgvs": "NP_075064.1:p.Val246Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 767, "referenceAllele": "G", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000264779.6:c.757G>A" ], "proteinEffect": { "hgvs": "ENSP00000264779.6:p.Val253Ile", "hgvsWellDefined": "ENSP00000264779.6:p.Val253Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS251588" }, { "coordinates": [ { "allele": "A", "end": 1090, "referenceAllele": "G", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000309096.4:n.1090G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS256153" }, { "coordinates": [ { "allele": "A", "end": 2070, "referenceAllele": "G", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000424459.7:c.796G>A" ], "proteinEffect": { "hgvs": "ENSP00000401596.2:p.Val266Ile", "hgvsWellDefined": "ENSP00000401596.2:p.Val266Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS288275" }, { "coordinates": [ { "allele": "A", "end": 1841, "referenceAllele": "G", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000506184.6:c.736G>A" ], "proteinEffect": { "hgvs": "ENSP00000421202.2:p.Val246Ile", "hgvsWellDefined": "ENSP00000421202.2:p.Val246Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS337783" }, { "coordinates": [ { "allele": "A", "end": 1269, "referenceAllele": "G", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000511209.5:c.757G>A" ], "proteinEffect": { "hgvs": "ENSP00000422337.1:p.Val253Ile", "hgvsWellDefined": "ENSP00000422337.1:p.Val253Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS341529" }, { "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000513524.5:n.390G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS343248" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "G", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "ENST00000514387.6:c.223G>A" ], "proteinEffect": { "hgvs": "ENSP00000421709.2:p.Val75Ile", "hgvsWellDefined": "ENSP00000421709.2:p.Val75Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS343883" }, { "@id": "http://reg.genome.network/allele/PA2825600937", "coordinates": [ { "allele": "A", "end": 1767, "referenceAllele": "G", "start": 1766 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001127235.2:c.757G>A" ], "proteinEffect": { "hgvs": "NP_001120707.2:p.Val253Ile", "hgvsWellDefined": "NP_001120707.2:p.Val253Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS011565" }, { "@id": "http://reg.genome.network/allele/PA2825600965", "coordinates": [ { "allele": "A", "end": 814, "referenceAllele": "G", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001127236.2:c.757G>A" ], "proteinEffect": { "hgvs": "NP_001120708.1:p.Val253Ile", "hgvsWellDefined": "NP_001120708.1:p.Val253Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS011566" }, { "@id": "http://reg.genome.network/allele/PA2580172662", "coordinates": [ { "allele": "A", "end": 1890, "referenceAllele": "G", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001203246.1:c.223G>A" ], "proteinEffect": { "hgvs": "NP_001190175.1:p.Val75Ile", "hgvsWellDefined": "NP_001190175.1:p.Val75Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS017462" }, { "@id": "http://reg.genome.network/allele/PA2830001797", "coordinates": [ { "allele": "A", "end": 2010, "referenceAllele": "G", "start": 2009 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_022913.3:c.736G>A" ], "proteinEffect": { "hgvs": "NP_075064.1:p.Val246Ile", "hgvsWellDefined": "NP_075064.1:p.Val246Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS037515" }, { "coordinates": [ { "allele": "A", "end": 2046, "referenceAllele": "G", "start": 2045 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_005248571.2:c.817G>A" ], "proteinEffect": { "hgvs": "XP_005248628.1:p.Val273Ile", "hgvsWellDefined": "XP_005248628.1:p.Val273Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS058494" }, { "coordinates": [ { "allele": "A", "end": 1905, "referenceAllele": "G", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_005248572.2:c.817G>A" ], "proteinEffect": { "hgvs": "XP_005248629.1:p.Val273Ile", "hgvsWellDefined": "XP_005248629.1:p.Val273Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS058495" }, { "coordinates": [ { "allele": "A", "end": 2025, "referenceAllele": "G", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_005248573.2:c.796G>A" ], "proteinEffect": { "hgvs": "XP_005248630.1:p.Val266Ile", "hgvsWellDefined": "XP_005248630.1:p.Val266Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS058496" }, { "coordinates": [ { "allele": "A", "end": 1986, "referenceAllele": "G", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_005248574.2:c.757G>A" ], "proteinEffect": { "hgvs": "XP_005248631.1:p.Val253Ile", "hgvsWellDefined": "XP_005248631.1:p.Val253Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS058497" }, { "coordinates": [ { "allele": "A", "end": 2061, "referenceAllele": "G", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_006714673.2:c.817G>A" ], "proteinEffect": { "hgvs": "XP_006714736.1:p.Val273Ile", "hgvsWellDefined": "XP_006714736.1:p.Val273Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070778" }, { "coordinates": [ { "allele": "A", "end": 2040, "referenceAllele": "G", "start": 2039 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_006714674.2:c.796G>A" ], "proteinEffect": { "hgvs": "XP_006714737.1:p.Val266Ile", "hgvsWellDefined": "XP_006714737.1:p.Val266Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS070779" }, { "@id": "http://reg.genome.network/allele/PA2827353111", "coordinates": [ { "allele": "A", "end": 2085, "referenceAllele": "G", "start": 2084 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001331037.1:c.796G>A" ], "proteinEffect": { "hgvs": "NP_001317966.1:p.Val266Ile", "hgvsWellDefined": "NP_001317966.1:p.Val266Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS517157" }, { "coordinates": [ { "allele": "A", "end": 2000, "referenceAllele": "G", "start": 1999 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_006714673.4:c.817G>A" ], "proteinEffect": { "hgvs": "XP_006714736.1:p.Val273Ile", "hgvsWellDefined": "XP_006714736.1:p.Val273Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS538768" }, { "coordinates": [ { "allele": "A", "end": 1982, "referenceAllele": "G", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_017009754.2:c.817G>A" ], "proteinEffect": { "hgvs": "XP_016865243.1:p.Val273Ile", "hgvsWellDefined": "XP_016865243.1:p.Val273Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563978" }, { "coordinates": [ { "allele": "A", "end": 1940, "referenceAllele": "G", "start": 1939 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_017009757.2:c.757G>A" ], "proteinEffect": { "hgvs": "XP_016865246.1:p.Val253Ile", "hgvsWellDefined": "XP_016865246.1:p.Val253Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563979" }, { "coordinates": [ { "allele": "A", "end": 1919, "referenceAllele": "G", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_017009758.2:c.736G>A" ], "proteinEffect": { "hgvs": "XP_016865247.1:p.Val246Ile", "hgvsWellDefined": "XP_016865247.1:p.Val246Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563980" }, { "coordinates": [ { "allele": "A", "end": 1846, "referenceAllele": "G", "start": 1845 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_017009759.2:c.736G>A" ], "proteinEffect": { "hgvs": "XP_016865248.1:p.Val246Ile", "hgvsWellDefined": "XP_016865248.1:p.Val246Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563981" }, { "coordinates": [ { "allele": "A", "end": 1912, "referenceAllele": "G", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446172.1:c.817G>A" ], "proteinEffect": { "hgvs": "XP_024301940.1:p.Val273Ile", "hgvsWellDefined": "XP_024301940.1:p.Val273Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS579846" }, { "coordinates": [ { "allele": "A", "end": 1961, "referenceAllele": "G", "start": 1960 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446173.1:c.796G>A" ], "proteinEffect": { "hgvs": "XP_024301941.1:p.Val266Ile", "hgvsWellDefined": "XP_024301941.1:p.Val266Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS579847" }, { "coordinates": [ { "allele": "A", "end": 1891, "referenceAllele": "G", "start": 1890 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446174.1:c.796G>A" ], "proteinEffect": { "hgvs": "XP_024301942.1:p.Val266Ile", "hgvsWellDefined": "XP_024301942.1:p.Val266Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS579848" }, { "coordinates": [ { "allele": "A", "end": 1922, "referenceAllele": "G", "start": 1921 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446175.1:c.757G>A" ], "proteinEffect": { "hgvs": "XP_024301943.1:p.Val253Ile", "hgvsWellDefined": "XP_024301943.1:p.Val253Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS579849" }, { "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "G", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446176.1:c.757G>A" ], "proteinEffect": { "hgvs": "XP_024301944.1:p.Val253Ile", "hgvsWellDefined": "XP_024301944.1:p.Val253Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS579850" }, { "coordinates": [ { "allele": "A", "end": 1831, "referenceAllele": "G", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446177.1:c.736G>A" ], "proteinEffect": { "hgvs": "XP_024301945.1:p.Val246Ile", "hgvsWellDefined": "XP_024301945.1:p.Val246Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS579851" }, { "coordinates": [ { "allele": "A", "end": 1711, "referenceAllele": "G", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446178.1:c.223G>A" ], "proteinEffect": { "hgvs": "XP_024301946.1:p.Val75Ile", "hgvsWellDefined": "XP_024301946.1:p.Val75Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS579852" }, { "coordinates": [ { "allele": "A", "end": 1841, "referenceAllele": "G", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446179.1:c.223G>A" ], "proteinEffect": { "hgvs": "XP_024301947.1:p.Val75Ile", "hgvsWellDefined": "XP_024301947.1:p.Val75Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS579853" }, { "coordinates": [ { "allele": "A", "end": 1771, "referenceAllele": "G", "start": 1770 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XM_024446180.1:c.223G>A" ], "proteinEffect": { "hgvs": "XP_024301948.1:p.Val75Ile", "hgvsWellDefined": "XP_024301948.1:p.Val75Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS579854" }, { "coordinates": [ { "allele": "A", "end": 1982, "referenceAllele": "G", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XR_001742204.2:n.1982G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591981" }, { "coordinates": [ { "allele": "A", "end": 1961, "referenceAllele": "G", "start": 1960 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XR_001742205.2:n.1961G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591982" }, { "coordinates": [ { "allele": "A", "end": 1901, "referenceAllele": "G", "start": 1900 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "XR_002956169.1:n.1901G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602331" }, { "@id": "http://reg.genome.network/allele/PA2830001797", "coordinates": [ { "allele": "A", "end": 1899, "referenceAllele": "G", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_022913.4:c.736G>A" ], "proteinEffect": { "hgvs": "NP_075064.1:p.Val246Ile", "hgvsWellDefined": "NP_075064.1:p.Val246Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS670532", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000506184.7:c.736G>A" }, "RefSeq": { "hgvs": "NM_022913.4:c.736G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000421202.2:p.Val246Ile" }, "RefSeq": { "hgvs": "NP_075064.1:p.Val246Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2580172662", "coordinates": [ { "allele": "A", "end": 1779, "referenceAllele": "G", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001203246.2:c.223G>A" ], "proteinEffect": { "hgvs": "NP_001190175.1:p.Val75Ile", "hgvsWellDefined": "NP_001190175.1:p.Val75Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS714101" }, { "@id": "http://reg.genome.network/allele/PA2827353111", "coordinates": [ { "allele": "A", "end": 1974, "referenceAllele": "G", "start": 1973 } ], "gene": "http://reg.genome.network/gene/GN029520", "geneNCBI_id": 65056, "geneSymbol": "GPBP1", "hgvs": [ "NM_001331037.2:c.796G>A" ], "proteinEffect": { "hgvs": "NP_001317966.1:p.Val266Ile", "hgvsWellDefined": "NP_001317966.1:p.Val266Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS718793" } ], "type": "nucleotide" }