{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8795918", "communityStandardTitle": [ "NM_001127198.5(TMC6):c.986C>T (p.Thr329Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=741072[alleleid]", "alleleId": 741072, "preferredName": "NM_001127198.5(TMC6):c.986C>T (p.Thr329Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/728420", "RCV": [ "RCV000902902", "RCV002542065" ], "variationId": 728420 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-76120166-G-A", "id": "17-76120166-G-A", "variant": "17:76120166 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.76120166G>A?assembly=hg19", "id": "chr17:g.76120166G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78124085G>A?assembly=hg38", "id": "chr17:g.78124085G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/143662903", "rs": 143662903 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-76120166-G-A?dataset=gnomad_r2_1", "id": "17-76120166-G-A", "variant": "17:76120166 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78124085-G-A?dataset=gnomad_r3", "id": "17-78124085-G-A", "variant": "17:78124085 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78124085-G-A?dataset=gnomad_r4", "id": "17-78124085-G-A", "variant": "17:78124085 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 78124085, "referenceAllele": "G", "start": 78124084 } ], "hgvs": [ "NC_000017.11:g.78124085G>A", "CM000679.2:g.78124085G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 76120166, "referenceAllele": "G", "start": 76120165 } ], "hgvs": [ "NC_000017.10:g.76120166G>A", "CM000679.1:g.76120166G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73631761, "referenceAllele": "G", "start": 73631760 } ], "hgvs": [ "NC_000017.9:g.73631761G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 13323, "referenceAllele": "C", "start": 13322 } ], "hgvs": [ "NG_007879.1:g.13323C>T", "LRG_118:g.13323C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000687" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1234, "referenceAllele": "C", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.6:c.986C>T" ], "proteinEffect": { "hgvs": "ENSP00000468255.2:p.Thr329Ile", "hgvsWellDefined": "ENSP00000468255.2:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS906091" }, { "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.6:c.986C>T" ], "proteinEffect": { "hgvs": "ENSP00000466885.2:p.Thr329Ile", "hgvsWellDefined": "ENSP00000466885.2:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS906111" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698545.1:n.463C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909502" }, { "coordinates": [ { "allele": "T", "end": 1128, "referenceAllele": "C", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698546.1:c.*808C>T" ], "proteinEffect": { "hgvs": "ENSP00000513789.1:n.*808C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS909503" }, { "coordinates": [ { "allele": "T", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698547.1:c.*304C>T" ], "proteinEffect": { "hgvs": "ENSP00000513790.1:n.*304C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS909504" }, { "coordinates": [ { "allele": "T", "end": 1187, "referenceAllele": "C", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698548.1:c.986C>T" ], "proteinEffect": { "hgvs": "ENSP00000513791.1:p.Thr329Ile", "hgvsWellDefined": "ENSP00000513791.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS909505" }, { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698549.1:c.*808C>T" ], "proteinEffect": { "hgvs": "ENSP00000513792.1:n.*808C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS909506" }, { "coordinates": [ { "allele": "T", "end": 1200, "referenceAllele": "C", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698550.1:c.986C>T" ], "proteinEffect": { "hgvs": "ENSP00000513793.1:p.Thr329Ile", "hgvsWellDefined": "ENSP00000513793.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS909507" }, { "coordinates": [ { "allele": "T", "end": 1200, "referenceAllele": "C", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698551.1:c.986C>T" ], "proteinEffect": { "hgvs": "ENSP00000513794.1:p.Thr329Ile", "hgvsWellDefined": "ENSP00000513794.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS909508" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.6:c.986C>T" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Thr329Ile", "hgvsWellDefined": "ENSP00000465261.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS761208", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.986C>T" }, "RefSeq": { "hgvs": "NM_001127198.5:c.986C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Thr329Ile" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Thr329Ile" } } } }, { "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000306591.11:c.986C>T" ], "proteinEffect": { "hgvs": "ENSP00000306405.6:p.Thr329Ile", "hgvsWellDefined": "ENSP00000306405.6:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS255758" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000322914.7:c.986C>T" ], "proteinEffect": { "hgvs": "ENSP00000313408.2:p.Thr329Ile", "hgvsWellDefined": "ENSP00000313408.2:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS258141" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000392467.7:c.986C>T" ], "proteinEffect": { "hgvs": "ENSP00000376260.2:p.Thr329Ile", "hgvsWellDefined": "ENSP00000376260.2:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS275110" }, { "coordinates": [ { "allele": "T", "end": 266, "referenceAllele": "C", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000585849.1:n.266C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388985" }, { "coordinates": [ { "allele": "T", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000588087.5:n.1179C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390540" }, { "coordinates": [ { "allele": "T", "end": 1004, "referenceAllele": "C", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589553.5:c.305C>T" ], "proteinEffect": { "hgvs": "ENSP00000465359.1:p.Thr102Ile", "hgvsWellDefined": "ENSP00000465359.1:p.Thr102Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS391568" }, { "coordinates": [ { "allele": "T", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.5:c.986C>T" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Thr329Ile", "hgvsWellDefined": "ENSP00000465261.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS392304" }, { "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000593044.5:n.1566C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS393975" }, { "@id": "http://reg.genome.network/allele/PA2825628837", "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.1:c.986C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Thr329Ile", "hgvsWellDefined": "NP_001120670.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS011536" }, { "@id": "http://reg.genome.network/allele/PA915991295", "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.6:c.986C>T", "LRG_118t1:c.986C>T" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Thr329Ile", "hgvsWellDefined": "NP_009198.4:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS032188" }, { "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256995.1:c.986C>T" ], "proteinEffect": { "hgvs": "XP_005257052.1:p.Thr329Ile", "hgvsWellDefined": "XP_005257052.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS061527" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256996.1:c.986C>T" ], "proteinEffect": { "hgvs": "XP_005257053.1:p.Thr329Ile", "hgvsWellDefined": "XP_005257053.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS061528" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256997.1:c.986C>T" ], "proteinEffect": { "hgvs": "XP_005257054.1:p.Thr329Ile", "hgvsWellDefined": "XP_005257054.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS061529" }, { "coordinates": [ { "allele": "T", "end": 833, "referenceAllele": "C", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256998.1:c.305C>T" ], "proteinEffect": { "hgvs": "XP_005257055.1:p.Thr102Ile", "hgvsWellDefined": "XP_005257055.1:p.Thr102Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS061530" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524255.1:c.986C>T" ], "proteinEffect": { "hgvs": "XP_011522557.1:p.Thr329Ile", "hgvsWellDefined": "XP_011522557.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091383" }, { "coordinates": [ { "allele": "T", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524256.1:c.860C>T" ], "proteinEffect": { "hgvs": "XP_011522558.1:p.Thr287Ile", "hgvsWellDefined": "XP_011522558.1:p.Thr287Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091384" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "C", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524257.1:c.176C>T" ], "proteinEffect": { "hgvs": "XP_011522559.1:p.Thr59Ile", "hgvsWellDefined": "XP_011522559.1:p.Thr59Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091385" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524258.1:c.986C>T" ], "proteinEffect": { "hgvs": "XP_011522560.1:p.Thr329Ile", "hgvsWellDefined": "XP_011522560.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS091386" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_243632.1:n.1174C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116571" }, { "@id": "http://reg.genome.network/allele/PA2825628837", "coordinates": [ { "allele": "T", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.2:c.986C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Thr329Ile", "hgvsWellDefined": "NP_001120670.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511401" }, { "@id": "http://reg.genome.network/allele/PA2827082869", "coordinates": [ { "allele": "T", "end": 1196, "referenceAllele": "C", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001321185.1:c.986C>T" ], "proteinEffect": { "hgvs": "NP_001308114.1:p.Thr329Ile", "hgvsWellDefined": "NP_001308114.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS514101" }, { "@id": "http://reg.genome.network/allele/PA915991295", "coordinates": [ { "allele": "T", "end": 1147, "referenceAllele": "C", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.7:c.986C>T" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Thr329Ile", "hgvsWellDefined": "NP_009198.4:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS525475" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524257.3:c.176C>T" ], "proteinEffect": { "hgvs": "XP_011522559.1:p.Thr59Ile", "hgvsWellDefined": "XP_011522559.1:p.Thr59Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS547392" }, { "coordinates": [ { "allele": "T", "end": 1221, "referenceAllele": "C", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024107.1:c.986C>T" ], "proteinEffect": { "hgvs": "XP_016879596.1:p.Thr329Ile", "hgvsWellDefined": "XP_016879596.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS574737" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024108.1:c.986C>T" ], "proteinEffect": { "hgvs": "XP_016879597.1:p.Thr329Ile", "hgvsWellDefined": "XP_016879597.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS574738" }, { "coordinates": [ { "allele": "T", "end": 1234, "referenceAllele": "C", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450555.1:c.986C>T" ], "proteinEffect": { "hgvs": "XP_024306323.1:p.Thr329Ile", "hgvsWellDefined": "XP_024306323.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS584089" }, { "coordinates": [ { "allele": "T", "end": 1345, "referenceAllele": "C", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450556.1:c.986C>T" ], "proteinEffect": { "hgvs": "XP_024306324.1:p.Thr329Ile", "hgvsWellDefined": "XP_024306324.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS584090" }, { "coordinates": [ { "allele": "T", "end": 1038, "referenceAllele": "C", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450557.1:c.305C>T" ], "proteinEffect": { "hgvs": "XP_024306325.1:p.Thr102Ile", "hgvsWellDefined": "XP_024306325.1:p.Thr102Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS584091" }, { "coordinates": [ { "allele": "T", "end": 1174, "referenceAllele": "C", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_001752420.1:n.1174C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599126" }, { "@id": "http://reg.genome.network/allele/PA2825628837", "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.5:c.986C>T" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Thr329Ile", "hgvsWellDefined": "NP_001120670.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS676849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.986C>T" }, "RefSeq": { "hgvs": "NM_001127198.5:c.986C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Thr329Ile" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Thr329Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2828528703", "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374593.1:c.986C>T" ], "proteinEffect": { "hgvs": "NP_001361522.1:p.Thr329Ile", "hgvsWellDefined": "NP_001361522.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS693328" }, { "@id": "http://reg.genome.network/allele/PA2828529184", "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374594.1:c.986C>T" ], "proteinEffect": { "hgvs": "NP_001361523.1:p.Thr329Ile", "hgvsWellDefined": "NP_001361523.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS693329" }, { "@id": "http://reg.genome.network/allele/PA2828584948", "coordinates": [ { "allele": "T", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375353.1:c.986C>T" ], "proteinEffect": { "hgvs": "NP_001362282.1:p.Thr329Ile", "hgvsWellDefined": "NP_001362282.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS693493" }, { "@id": "http://reg.genome.network/allele/PA2828585452", "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375354.1:c.986C>T" ], "proteinEffect": { "hgvs": "NP_001362283.1:p.Thr329Ile", "hgvsWellDefined": "NP_001362283.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS693494" }, { "@id": "http://reg.genome.network/allele/PA2828529665", "coordinates": [ { "allele": "T", "end": 1225, "referenceAllele": "C", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374596.1:c.986C>T" ], "proteinEffect": { "hgvs": "NP_001361525.1:p.Thr329Ile", "hgvsWellDefined": "NP_001361525.1:p.Thr329Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS721209" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168288.1:n.1204C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731925" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168289.1:n.1204C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731926" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168290.1:n.1107C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731927" }, { "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168291.1:n.1157C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731928" } ], "type": "nucleotide" }