{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA201663", "communityStandardTitle": [ "NM_014780.5(CUL7):c.533G>T (p.Arg178Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192463[alleleid]", "alleleId": 192463, "preferredName": "NM_014780.5(CUL7):c.533G>T (p.Arg178Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195302", "RCV": [ "RCV000175865", "RCV000304448", "RCV000894602" ], "variationId": 195302 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-43019994-C-A", "id": "6-43019994-C-A", "variant": "6:43019994 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43019994C>A?assembly=hg19", "id": "chr6:g.43019994C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.43052256C>A?assembly=hg38", "id": "chr6:g.43052256C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/183865568", "rs": 183865568 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43019994-C-A?dataset=gnomad_r2_1", "id": "6-43019994-C-A", "variant": "6:43019994 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43052256-C-A?dataset=gnomad_r3", "id": "6-43052256-C-A", "variant": "6:43052256 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-43052256-C-A?dataset=gnomad_r4", "id": "6-43052256-C-A", "variant": "6:43052256 C / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 43052256, "referenceAllele": "C", "start": 43052255 } ], "hgvs": [ "NC_000006.12:g.43052256C>A", "CM000668.2:g.43052256C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 43019994, "referenceAllele": "C", "start": 43019993 } ], "hgvs": [ "NC_000006.11:g.43019994C>A", "CM000668.1:g.43019994C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 43127972, "referenceAllele": "C", "start": 43127971 } ], "hgvs": [ "NC_000006.10:g.43127972C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 6690, "referenceAllele": "G", "start": 6689 } ], "hgvs": [ "NG_016205.1:g.6690G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003011" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "G", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674112.2:c.533G>T" ], "proteinEffect": { "hgvs": "ENSP00000501166.2:p.Arg178Leu", "hgvsWellDefined": "ENSP00000501166.2:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS826891" }, { "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "G", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000683160.1:n.819G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828144" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000683493.1:n.574G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828467" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "G", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000685042.1:c.533G>T" ], "proteinEffect": { "hgvs": "ENSP00000509871.1:p.Arg178Leu", "hgvsWellDefined": "ENSP00000509871.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS829855" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "G", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000686442.1:n.816G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830576" }, { "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000687225.1:c.533G>T" ], "proteinEffect": { "hgvs": "ENSP00000509364.1:p.Arg178Leu", "hgvsWellDefined": "ENSP00000509364.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS830985" }, { "coordinates": [ { "allele": "T", "end": 816, "referenceAllele": "G", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000688302.1:n.816G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831549" }, { "coordinates": [ { "allele": "T", "end": 541, "referenceAllele": "G", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000688707.1:c.533G>T" ], "proteinEffect": { "hgvs": "ENSP00000510608.1:p.Arg178Leu", "hgvsWellDefined": "ENSP00000510608.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS831772" }, { "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "G", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000689256.1:n.736G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832076" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "G", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000690231.1:c.533G>T" ], "proteinEffect": { "hgvs": "ENSP00000508461.1:p.Arg178Leu", "hgvsWellDefined": "ENSP00000508461.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832598" }, { "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.9:c.533G>T" ], "proteinEffect": { "hgvs": "ENSP00000265348.4:p.Arg178Leu", "hgvsWellDefined": "ENSP00000265348.4:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS742823", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.533G>T" }, "RefSeq": { "hgvs": "NM_014780.5:c.533G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Arg178Leu" }, "RefSeq": { "hgvs": "NP_055595.2:p.Arg178Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000673753.1:n.771G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773844" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "G", "start": 1173 } ], "hgvs": [ "ENST00000673761.1:c.1174G>T" ], "proteinEffect": { "hgvs": "ENSP00000501018.1:n.1174G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773850" }, { "coordinates": [ { "allele": "T", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674100.1:c.533G>T" ], "proteinEffect": { "hgvs": "ENSP00000501292.1:p.Arg178Leu", "hgvsWellDefined": "ENSP00000501292.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774119" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000674134.1:c.533G>T" ], "proteinEffect": { "hgvs": "ENSP00000501068.1:p.Arg178Leu", "hgvsWellDefined": "ENSP00000501068.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS774152" }, { "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000265348.7:c.533G>T" ], "proteinEffect": { "hgvs": "ENSP00000265348.3:p.Arg178Leu", "hgvsWellDefined": "ENSP00000265348.3:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS251724" }, { "coordinates": [ { "allele": "A", "end": 799, "endIntronDirection": "-", "endIntronOffset": 6769, "referenceAllele": "C", "start": 799, "startIntronDirection": "-", "startIntronOffset": 6770 } ], "gene": "http://reg.genome.network/gene/GN021624", "geneNCBI_id": 89953, "geneSymbol": "KLC4", "hgvs": [ "ENST00000467906.5:c.-552-6770C>A" ], "proteinEffect": { "hgvs": "ENSP00000418759.1:n.-552-6770C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS310946" }, { "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "G", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "ENST00000535468.1:c.689G>T" ], "proteinEffect": { "hgvs": "ENSP00000438788.1:p.Arg230Leu", "hgvsWellDefined": "ENSP00000438788.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS359744" }, { "@id": "http://reg.genome.network/allele/PA915990325", "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "G", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.1:c.689G>T" ], "proteinEffect": { "hgvs": "NP_001161842.1:p.Arg230Leu", "hgvsWellDefined": "NP_001161842.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS015097" }, { "@id": "http://reg.genome.network/allele/PA201664", "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.4:c.533G>T" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Arg178Leu", "hgvsWellDefined": "NP_055595.2:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS033460" }, { "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "G", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.1:c.689G>T" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Arg230Leu", "hgvsWellDefined": "XP_005249560.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS058852" }, { "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "G", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.1:c.533G>T" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Arg178Leu", "hgvsWellDefined": "XP_006715348.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS071100" }, { "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "G", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.1:c.689G>T" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Arg230Leu", "hgvsWellDefined": "XP_011513321.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082239" }, { "coordinates": [ { "allele": "T", "end": 725, "referenceAllele": "G", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.1:c.689G>T" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Arg230Leu", "hgvsWellDefined": "XP_011513322.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082240" }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_005249503.3:c.689G>T" ], "proteinEffect": { "hgvs": "XP_005249560.1:p.Arg230Leu", "hgvsWellDefined": "XP_005249560.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS533273" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_006715285.2:c.533G>T" ], "proteinEffect": { "hgvs": "XP_006715348.1:p.Arg178Leu", "hgvsWellDefined": "XP_006715348.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS538903" }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515019.2:c.689G>T" ], "proteinEffect": { "hgvs": "XP_011513321.1:p.Arg230Leu", "hgvsWellDefined": "XP_011513321.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543562" }, { "coordinates": [ { "allele": "T", "end": 726, "referenceAllele": "G", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_011515020.2:c.689G>T" ], "proteinEffect": { "hgvs": "XP_011513322.1:p.Arg230Leu", "hgvsWellDefined": "XP_011513322.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543563" }, { "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011533.1:c.689G>T" ], "proteinEffect": { "hgvs": "XP_016867022.1:p.Arg230Leu", "hgvsWellDefined": "XP_016867022.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565365" }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011534.1:c.689G>T" ], "proteinEffect": { "hgvs": "XP_016867023.1:p.Arg230Leu", "hgvsWellDefined": "XP_016867023.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565366" }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "G", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011535.1:c.689G>T" ], "proteinEffect": { "hgvs": "XP_016867024.1:p.Arg230Leu", "hgvsWellDefined": "XP_016867024.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565367" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011536.2:c.533G>T" ], "proteinEffect": { "hgvs": "XP_016867025.1:p.Arg178Leu", "hgvsWellDefined": "XP_016867025.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565368" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011537.2:c.533G>T" ], "proteinEffect": { "hgvs": "XP_016867026.1:p.Arg178Leu", "hgvsWellDefined": "XP_016867026.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565369" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011538.2:c.533G>T" ], "proteinEffect": { "hgvs": "XP_016867027.1:p.Arg178Leu", "hgvsWellDefined": "XP_016867027.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565370" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011539.2:c.533G>T" ], "proteinEffect": { "hgvs": "XP_016867028.1:p.Arg178Leu", "hgvsWellDefined": "XP_016867028.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565371" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "G", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "XM_017011540.1:c.689G>T" ], "proteinEffect": { "hgvs": "XP_016867029.1:p.Arg230Leu", "hgvsWellDefined": "XP_016867029.1:p.Arg230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565372" }, { "@id": "http://reg.genome.network/allele/PA2826055435", "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001168370.2:c.533G>T" ], "proteinEffect": { "hgvs": "NP_001161842.2:p.Arg178Leu", "hgvsWellDefined": "NP_001161842.2:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS678585" }, { "@id": "http://reg.genome.network/allele/PA2828562729", "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374872.1:c.533G>T" ], "proteinEffect": { "hgvs": "NP_001361801.1:p.Arg178Leu", "hgvsWellDefined": "NP_001361801.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS693421" }, { "@id": "http://reg.genome.network/allele/PA2828562975", "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374873.1:c.533G>T" ], "proteinEffect": { "hgvs": "NP_001361802.1:p.Arg178Leu", "hgvsWellDefined": "NP_001361802.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS693422" }, { "@id": "http://reg.genome.network/allele/PA2828563531", "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_001374874.1:c.533G>T" ], "proteinEffect": { "hgvs": "NP_001361803.1:p.Arg178Leu", "hgvsWellDefined": "NP_001361803.1:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS693423" }, { "@id": "http://reg.genome.network/allele/PA201664", "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN021024", "geneNCBI_id": 9820, "geneSymbol": "CUL7", "hgvs": [ "NM_014780.5:c.533G>T" ], "proteinEffect": { "hgvs": "NP_055595.2:p.Arg178Leu", "hgvsWellDefined": "NP_055595.2:p.Arg178Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS697344", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265348.9:c.533G>T" }, "RefSeq": { "hgvs": "NM_014780.5:c.533G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265348.4:p.Arg178Leu" }, "RefSeq": { "hgvs": "NP_055595.2:p.Arg178Leu" } } } } ], "type": "nucleotide" }