{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA294351362", "communityStandardTitle": [ "NM_001127198.5(TMC6):c.1298T>C (p.Val433Ala)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=646799[alleleid]", "alleleId": 646799, "preferredName": "NM_001127198.5(TMC6):c.1298T>C (p.Val433Ala)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/645821", "RCV": [ "RCV000799983" ], "variationId": 645821 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.76117722A>G?assembly=hg19", "id": "chr17:g.76117722A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.78121641A>G?assembly=hg38", "id": "chr17:g.78121641A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/954564790", "rs": 954564790 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-76117722-A-G?dataset=gnomad_r2_1", "id": "17-76117722-A-G", "variant": "17:76117722 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78121641-A-G?dataset=gnomad_r3", "id": "17-78121641-A-G", "variant": "17:78121641 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-78121641-A-G?dataset=gnomad_r4", "id": "17-78121641-A-G", "variant": "17:78121641 A / G" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 78121641, "referenceAllele": "A", "start": 78121640 } ], "hgvs": [ "NC_000017.11:g.78121641A>G", "CM000679.2:g.78121641A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 76117722, "referenceAllele": "A", "start": 76117721 } ], "hgvs": [ "NC_000017.10:g.76117722A>G", "CM000679.1:g.76117722A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "G", "end": 73629317, "referenceAllele": "A", "start": 73629316 } ], "hgvs": [ "NC_000017.9:g.73629317A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "C", "end": 15767, "referenceAllele": "T", "start": 15766 } ], "hgvs": [ "NG_007879.1:g.15767T>C", "LRG_118:g.15767T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000687" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1546, "referenceAllele": "T", "start": 1545 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589271.6:c.1298T>C" ], "proteinEffect": { "hgvs": "ENSP00000468255.2:p.Val433Ala", "hgvsWellDefined": "ENSP00000468255.2:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS906091" }, { "coordinates": [ { "allele": "C", "end": 1584, "referenceAllele": "T", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592063.6:c.1298T>C" ], "proteinEffect": { "hgvs": "ENSP00000466885.2:p.Val433Ala", "hgvsWellDefined": "ENSP00000466885.2:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS906111" }, { "coordinates": [ { "allele": "C", "end": 775, "referenceAllele": "T", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698545.1:n.775T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS909502" }, { "coordinates": [ { "allele": "C", "end": 1440, "referenceAllele": "T", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698546.1:c.*1120T>C" ], "proteinEffect": { "hgvs": "ENSP00000513789.1:n.*1120T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS909503" }, { "coordinates": [ { "allele": "C", "end": 1393, "referenceAllele": "T", "start": 1392 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698547.1:c.*616T>C" ], "proteinEffect": { "hgvs": "ENSP00000513790.1:n.*616T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS909504" }, { "coordinates": [ { "allele": "C", "end": 1499, "referenceAllele": "T", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698548.1:c.1298T>C" ], "proteinEffect": { "hgvs": "ENSP00000513791.1:p.Val433Ala", "hgvsWellDefined": "ENSP00000513791.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS909505" }, { "coordinates": [ { "allele": "C", "end": 1408, "referenceAllele": "T", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698549.1:c.*1120T>C" ], "proteinEffect": { "hgvs": "ENSP00000513792.1:n.*1120T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS909506" }, { "coordinates": [ { "allele": "C", "end": 1512, "referenceAllele": "T", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698550.1:c.1298T>C" ], "proteinEffect": { "hgvs": "ENSP00000513793.1:p.Val433Ala", "hgvsWellDefined": "ENSP00000513793.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS909507" }, { "coordinates": [ { "allele": "C", "end": 1512, "referenceAllele": "T", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000698551.1:c.1298T>C" ], "proteinEffect": { "hgvs": "ENSP00000513794.1:p.Val433Ala", "hgvsWellDefined": "ENSP00000513794.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS909508" }, { "coordinates": [ { "allele": "C", "end": 1516, "referenceAllele": "T", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.6:c.1298T>C" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Val433Ala", "hgvsWellDefined": "ENSP00000465261.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS761208", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.1298T>C" }, "RefSeq": { "hgvs": "NM_001127198.5:c.1298T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Val433Ala" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Val433Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 1320, "endIntronDirection": "+", "endIntronOffset": 964, "referenceAllele": "T", "start": 1320, "startIntronDirection": "+", "startIntronOffset": 963 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000306591.11:c.1227+964T>C" ], "proteinEffect": { "hgvs": "ENSP00000306405.6:n.1227+964T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS255758" }, { "coordinates": [ { "allele": "C", "end": 1439, "referenceAllele": "T", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000322914.7:c.1298T>C" ], "proteinEffect": { "hgvs": "ENSP00000313408.2:p.Val433Ala", "hgvsWellDefined": "ENSP00000313408.2:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS258141" }, { "coordinates": [ { "allele": "C", "end": 1486, "referenceAllele": "T", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000392467.7:c.1298T>C" ], "proteinEffect": { "hgvs": "ENSP00000376260.2:p.Val433Ala", "hgvsWellDefined": "ENSP00000376260.2:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS275110" }, { "coordinates": [ { "allele": "C", "end": 1491, "referenceAllele": "T", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000588087.5:n.1491T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS390540" }, { "coordinates": [ { "allele": "C", "end": 1316, "referenceAllele": "T", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000589553.5:c.617T>C" ], "proteinEffect": { "hgvs": "ENSP00000465359.1:p.Val206Ala", "hgvsWellDefined": "ENSP00000465359.1:p.Val206Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS391568" }, { "coordinates": [ { "allele": "C", "end": 1458, "referenceAllele": "T", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000590602.5:c.1298T>C" ], "proteinEffect": { "hgvs": "ENSP00000465261.1:p.Val433Ala", "hgvsWellDefined": "ENSP00000465261.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS392304" }, { "coordinates": [ { "allele": "C", "end": 215, "referenceAllele": "T", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000591436.5:c.215T>C" ], "proteinEffect": { "hgvs": "ENSP00000464853.1:p.Val72Ala", "hgvsWellDefined": "ENSP00000464853.1:p.Val72Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS392867" }, { "coordinates": [ { "allele": "C", "end": 323, "endIntronDirection": "+", "endIntronOffset": 964, "referenceAllele": "T", "start": 323, "startIntronDirection": "+", "startIntronOffset": 963 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000592076.5:n.323+964T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS393314" }, { "coordinates": [ { "allele": "C", "end": 1878, "referenceAllele": "T", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "ENST00000593044.5:n.1878T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS393975" }, { "@id": "http://reg.genome.network/allele/PA2825628924", "coordinates": [ { "allele": "C", "end": 1541, "referenceAllele": "T", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.1:c.1298T>C" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Val433Ala", "hgvsWellDefined": "NP_001120670.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS011536" }, { "@id": "http://reg.genome.network/allele/PA915991312", "coordinates": [ { "allele": "C", "end": 1439, "referenceAllele": "T", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.6:c.1298T>C", "LRG_118t1:c.1298T>C" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Val433Ala", "hgvsWellDefined": "NP_009198.4:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS032188" }, { "coordinates": [ { "allele": "C", "end": 1584, "referenceAllele": "T", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256995.1:c.1298T>C" ], "proteinEffect": { "hgvs": "XP_005257052.1:p.Val433Ala", "hgvsWellDefined": "XP_005257052.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS061527" }, { "coordinates": [ { "allele": "C", "end": 1486, "referenceAllele": "T", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256996.1:c.1298T>C" ], "proteinEffect": { "hgvs": "XP_005257053.1:p.Val433Ala", "hgvsWellDefined": "XP_005257053.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS061528" }, { "coordinates": [ { "allele": "C", "end": 1486, "referenceAllele": "T", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256997.1:c.1298T>C" ], "proteinEffect": { "hgvs": "XP_005257054.1:p.Val433Ala", "hgvsWellDefined": "XP_005257054.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS061529" }, { "coordinates": [ { "allele": "C", "end": 1145, "referenceAllele": "T", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_005256998.1:c.617T>C" ], "proteinEffect": { "hgvs": "XP_005257055.1:p.Val206Ala", "hgvsWellDefined": "XP_005257055.1:p.Val206Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS061530" }, { "coordinates": [ { "allele": "C", "end": 1486, "referenceAllele": "T", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524255.1:c.1298T>C" ], "proteinEffect": { "hgvs": "XP_011522557.1:p.Val433Ala", "hgvsWellDefined": "XP_011522557.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS091383" }, { "coordinates": [ { "allele": "C", "end": 1360, "referenceAllele": "T", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524256.1:c.1172T>C" ], "proteinEffect": { "hgvs": "XP_011522558.1:p.Val391Ala", "hgvsWellDefined": "XP_011522558.1:p.Val391Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS091384" }, { "coordinates": [ { "allele": "C", "end": 628, "referenceAllele": "T", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524257.1:c.488T>C" ], "proteinEffect": { "hgvs": "XP_011522559.1:p.Val163Ala", "hgvsWellDefined": "XP_011522559.1:p.Val163Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS091385" }, { "coordinates": [ { "allele": "C", "end": 1415, "endIntronDirection": "+", "endIntronOffset": 964, "referenceAllele": "T", "start": 1415, "startIntronDirection": "+", "startIntronOffset": 963 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524258.1:c.1227+964T>C" ], "proteinEffect": { "hgvs": "XP_011522560.1:n.1227+964T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS091386" }, { "coordinates": [ { "allele": "C", "end": 1486, "referenceAllele": "T", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_243632.1:n.1486T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS116571" }, { "@id": "http://reg.genome.network/allele/PA2825628924", "coordinates": [ { "allele": "C", "end": 1555, "referenceAllele": "T", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.2:c.1298T>C" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Val433Ala", "hgvsWellDefined": "NP_001120670.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511401" }, { "@id": "http://reg.genome.network/allele/PA2827082986", "coordinates": [ { "allele": "C", "end": 1508, "referenceAllele": "T", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001321185.1:c.1298T>C" ], "proteinEffect": { "hgvs": "NP_001308114.1:p.Val433Ala", "hgvsWellDefined": "NP_001308114.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS514101" }, { "@id": "http://reg.genome.network/allele/PA915991312", "coordinates": [ { "allele": "C", "end": 1459, "referenceAllele": "T", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_007267.7:c.1298T>C" ], "proteinEffect": { "hgvs": "NP_009198.4:p.Val433Ala", "hgvsWellDefined": "NP_009198.4:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS525475" }, { "coordinates": [ { "allele": "C", "end": 605, "referenceAllele": "T", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_011524257.3:c.488T>C" ], "proteinEffect": { "hgvs": "XP_011522559.1:p.Val163Ala", "hgvsWellDefined": "XP_011522559.1:p.Val163Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS547392" }, { "coordinates": [ { "allele": "C", "end": 1533, "referenceAllele": "T", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024107.1:c.1298T>C" ], "proteinEffect": { "hgvs": "XP_016879596.1:p.Val433Ala", "hgvsWellDefined": "XP_016879596.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS574737" }, { "coordinates": [ { "allele": "C", "end": 1486, "referenceAllele": "T", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_017024108.1:c.1298T>C" ], "proteinEffect": { "hgvs": "XP_016879597.1:p.Val433Ala", "hgvsWellDefined": "XP_016879597.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS574738" }, { "coordinates": [ { "allele": "C", "end": 1546, "referenceAllele": "T", "start": 1545 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450555.1:c.1298T>C" ], "proteinEffect": { "hgvs": "XP_024306323.1:p.Val433Ala", "hgvsWellDefined": "XP_024306323.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS584089" }, { "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "T", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450556.1:c.1298T>C" ], "proteinEffect": { "hgvs": "XP_024306324.1:p.Val433Ala", "hgvsWellDefined": "XP_024306324.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS584090" }, { "coordinates": [ { "allele": "C", "end": 1350, "referenceAllele": "T", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XM_024450557.1:c.617T>C" ], "proteinEffect": { "hgvs": "XP_024306325.1:p.Val206Ala", "hgvsWellDefined": "XP_024306325.1:p.Val206Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS584091" }, { "coordinates": [ { "allele": "C", "end": 1486, "referenceAllele": "T", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "XR_001752420.1:n.1486T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS599126" }, { "@id": "http://reg.genome.network/allele/PA2825628924", "coordinates": [ { "allele": "C", "end": 1516, "referenceAllele": "T", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001127198.5:c.1298T>C" ], "proteinEffect": { "hgvs": "NP_001120670.1:p.Val433Ala", "hgvsWellDefined": "NP_001120670.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS676849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000590602.6:c.1298T>C" }, "RefSeq": { "hgvs": "NM_001127198.5:c.1298T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000465261.1:p.Val433Ala" }, "RefSeq": { "hgvs": "NP_001120670.1:p.Val433Ala" } } } }, { "@id": "http://reg.genome.network/allele/PA2828528766", "coordinates": [ { "allele": "C", "end": 1516, "referenceAllele": "T", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374593.1:c.1298T>C" ], "proteinEffect": { "hgvs": "NP_001361522.1:p.Val433Ala", "hgvsWellDefined": "NP_001361522.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS693328" }, { "@id": "http://reg.genome.network/allele/PA2828529248", "coordinates": [ { "allele": "C", "end": 1469, "referenceAllele": "T", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374594.1:c.1298T>C" ], "proteinEffect": { "hgvs": "NP_001361523.1:p.Val433Ala", "hgvsWellDefined": "NP_001361523.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS693329" }, { "@id": "http://reg.genome.network/allele/PA2828585011", "coordinates": [ { "allele": "C", "end": 1537, "referenceAllele": "T", "start": 1536 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375353.1:c.1298T>C" ], "proteinEffect": { "hgvs": "NP_001362282.1:p.Val433Ala", "hgvsWellDefined": "NP_001362282.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS693493" }, { "@id": "http://reg.genome.network/allele/PA2828585516", "coordinates": [ { "allele": "C", "end": 1584, "referenceAllele": "T", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001375354.1:c.1298T>C" ], "proteinEffect": { "hgvs": "NP_001362283.1:p.Val433Ala", "hgvsWellDefined": "NP_001362283.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS693494" }, { "@id": "http://reg.genome.network/allele/PA2828529729", "coordinates": [ { "allele": "C", "end": 1537, "referenceAllele": "T", "start": 1536 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NM_001374596.1:c.1298T>C" ], "proteinEffect": { "hgvs": "NP_001361525.1:p.Val433Ala", "hgvsWellDefined": "NP_001361525.1:p.Val433Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS721209" }, { "coordinates": [ { "allele": "C", "end": 1516, "referenceAllele": "T", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168288.1:n.1516T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731925" }, { "coordinates": [ { "allele": "C", "end": 1516, "referenceAllele": "T", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168289.1:n.1516T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731926" }, { "coordinates": [ { "allele": "C", "end": 1419, "referenceAllele": "T", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168290.1:n.1419T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731927" }, { "coordinates": [ { "allele": "C", "end": 1469, "referenceAllele": "T", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN018021", "geneNCBI_id": 11322, "geneSymbol": "TMC6", "hgvs": [ "NR_168291.1:n.1469T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS731928" } ], "type": "nucleotide" }