{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8796105", "communityStandardTitle": [ "NM_001127198.5(TMC6):c.526C>T (p.Arg176Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1126827[alleleid]", "alleleId": 1126827, "preferredName": "NM_001127198.5(TMC6):c.526C>T (p.Arg176Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1122634", "RCV": [ "RCV001453366", "RCV002560336" ], "variationId": 1122634 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-76121249-G-A", "id": "17-76121249-G-A", "variant": "17:76121249 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.76121249G>A?assembly=hg19", "id": "chr17:g.76121249G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78125168G>A?assembly=hg38", "id": "chr17:g.78125168G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/112743475", "rs": 112743475 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-76121249-G-A?dataset=gnomad_r2_1", "id": "17-76121249-G-A", "variant": "17:76121249 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78125168-G-A?dataset=gnomad_r3", "id": "17-78125168-G-A", "variant": "17:78125168 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78125168-G-A?dataset=gnomad_r4", "id": "17-78125168-G-A", "variant": "17:78125168 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 78125168, "referenceAllele": "G", "start": 78125167 } ], "hgvs": [ "NC_000017.11:g.78125168G>A", "CM000679.2:g.78125168G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 76121249, "referenceAllele": "G", "start": 76121248 } ], "hgvs": [ "NC_000017.10:g.76121249G>A", "CM000679.1:g.76121249G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73632844, "referenceAllele": "G", "start": 73632843 } ], "hgvs": [ "NC_000017.9:g.73632844G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 12240, "referenceAllele": "C", "start": 12239 } ], "hgvs": [ "NG_007879.1:g.12240C>T", "LRG_118:g.12240C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000687" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.6:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000468255.2:p.Arg176Cys", "hgvsWellDefined": "ENSP00000468255.2:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS906091" }, { "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.6:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000466885.2:p.Arg176Cys", "hgvsWellDefined": "ENSP00000466885.2:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS906111" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698546.1:c.*348C>T" ], "proteinEffect": { "hgvs": "ENSP00000513789.1:n.*348C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS909503" }, { "coordinates": [ { "allele": "T", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698547.1:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000513790.1:p.Arg176Cys", "hgvsWellDefined": "ENSP00000513790.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS909504" }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698548.1:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000513791.1:p.Arg176Cys", "hgvsWellDefined": "ENSP00000513791.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS909505" }, { "coordinates": [ { "allele": "T", "end": 636, "referenceAllele": "C", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698549.1:c.*348C>T" ], "proteinEffect": { "hgvs": "ENSP00000513792.1:n.*348C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS909506" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698550.1:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000513793.1:p.Arg176Cys", "hgvsWellDefined": "ENSP00000513793.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS909507" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698551.1:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000513794.1:p.Arg176Cys", "hgvsWellDefined": "ENSP00000513794.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS909508" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.6:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Arg176Cys", "hgvsWellDefined": "ENSP00000465261.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS761208", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.526C>T" }, "RefSeq": { "hgvs": "NM_001127198.5:c.526C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Arg176Cys" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Arg176Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "C", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000306591.11:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000306405.6:p.Arg176Cys", "hgvsWellDefined": "ENSP00000306405.6:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS255758" }, { "coordinates": [ { "allele": "T", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000322914.7:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000313408.2:p.Arg176Cys", "hgvsWellDefined": "ENSP00000313408.2:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS258141" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000392467.7:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000376260.2:p.Arg176Cys", "hgvsWellDefined": "ENSP00000376260.2:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS275110" }, { "coordinates": [ { "allele": "T", "end": 260, "referenceAllele": "C", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000586271.1:n.260C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389282" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000588087.5:n.719C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390540" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.5:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000468255.1:p.Arg176Cys", "hgvsWellDefined": "ENSP00000468255.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS391375" }, { "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589553.5:c.-59C>T" ], "proteinEffect": { "hgvs": "ENSP00000465359.1:n.-59C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS391568" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.5:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Arg176Cys", "hgvsWellDefined": "ENSP00000465261.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS392304" }, { "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000591594.5:n.526C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392976" }, { "coordinates": [ { "allele": "T", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000593044.5:n.1106C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS393975" }, { "@id": "http://reg.genome.network/allele/PA2825628709", "coordinates": [ { "allele": "T", "end": 769, "referenceAllele": "C", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.1:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Arg176Cys", "hgvsWellDefined": "NP_001120670.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011536" }, { "@id": "http://reg.genome.network/allele/PA2499276027", "coordinates": [ { "allele": "T", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.6:c.526C>T", "LRG_118t1:c.526C>T" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Arg176Cys", "hgvsWellDefined": "NP_009198.4:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS032188" }, { "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256995.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_005257052.1:p.Arg176Cys", "hgvsWellDefined": "XP_005257052.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS061527" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256996.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_005257053.1:p.Arg176Cys", "hgvsWellDefined": "XP_005257053.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS061528" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256997.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_005257054.1:p.Arg176Cys", "hgvsWellDefined": "XP_005257054.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS061529" }, { "coordinates": [ { "allele": "T", "end": 470, "referenceAllele": "C", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256998.1:c.-59C>T" ], "proteinEffect": { "hgvs": "XP_005257055.1:n.-59C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS061530" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524255.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_011522557.1:p.Arg176Cys", "hgvsWellDefined": "XP_011522557.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS091383" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524256.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_011522558.1:p.Arg176Cys", "hgvsWellDefined": "XP_011522558.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS091384" }, { "coordinates": [ { "allele": "T", "end": 79, "referenceAllele": "C", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524257.1:c.-62C>T" ], "proteinEffect": { "hgvs": "XP_011522559.1:n.-62C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS091385" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524258.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_011522560.1:p.Arg176Cys", "hgvsWellDefined": "XP_011522560.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS091386" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_243632.1:n.714C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116571" }, { "@id": "http://reg.genome.network/allele/PA2825628709", "coordinates": [ { "allele": "T", "end": 783, "referenceAllele": "C", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.2:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Arg176Cys", "hgvsWellDefined": "NP_001120670.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511401" }, { "@id": "http://reg.genome.network/allele/PA2827082671", "coordinates": [ { "allele": "T", "end": 736, "referenceAllele": "C", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001321185.1:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001308114.1:p.Arg176Cys", "hgvsWellDefined": "NP_001308114.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514101" }, { "@id": "http://reg.genome.network/allele/PA2499276027", "coordinates": [ { "allele": "T", "end": 687, "referenceAllele": "C", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.7:c.526C>T" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Arg176Cys", "hgvsWellDefined": "NP_009198.4:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS525475" }, { "coordinates": [ { "allele": "T", "end": 56, "referenceAllele": "C", "start": 55 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524257.3:c.-62C>T" ], "proteinEffect": { "hgvs": "XP_011522559.1:n.-62C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS547392" }, { "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024107.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_016879596.1:p.Arg176Cys", "hgvsWellDefined": "XP_016879596.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS574737" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024108.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_016879597.1:p.Arg176Cys", "hgvsWellDefined": "XP_016879597.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS574738" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450555.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_024306323.1:p.Arg176Cys", "hgvsWellDefined": "XP_024306323.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS584089" }, { "coordinates": [ { "allele": "T", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450556.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_024306324.1:p.Arg176Cys", "hgvsWellDefined": "XP_024306324.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS584090" }, { "coordinates": [ { "allele": "T", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450557.1:c.-59C>T" ], "proteinEffect": { "hgvs": "XP_024306325.1:n.-59C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS584091" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_001752420.1:n.714C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599126" }, { "@id": "http://reg.genome.network/allele/PA2825628709", "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.5:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Arg176Cys", "hgvsWellDefined": "NP_001120670.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.526C>T" }, "RefSeq": { "hgvs": "NM_001127198.5:c.526C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Arg176Cys" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Arg176Cys" } } } }, { "@id": "http://reg.genome.network/allele/PA2828528607", "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374593.1:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001361522.1:p.Arg176Cys", "hgvsWellDefined": "NP_001361522.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693328" }, { "@id": "http://reg.genome.network/allele/PA2828529088", "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374594.1:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001361523.1:p.Arg176Cys", "hgvsWellDefined": "NP_001361523.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693329" }, { "@id": "http://reg.genome.network/allele/PA2828584852", "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375353.1:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001362282.1:p.Arg176Cys", "hgvsWellDefined": "NP_001362282.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693493" }, { "@id": "http://reg.genome.network/allele/PA2828585356", "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375354.1:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001362283.1:p.Arg176Cys", "hgvsWellDefined": "NP_001362283.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS693494" }, { "@id": "http://reg.genome.network/allele/PA2828529569", "coordinates": [ { "allele": "T", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374596.1:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001361525.1:p.Arg176Cys", "hgvsWellDefined": "NP_001361525.1:p.Arg176Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721209" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168288.1:n.744C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731925" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168289.1:n.744C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731926" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "C", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168290.1:n.744C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731927" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168291.1:n.697C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731928" } ], "type": "nucleotide" }