{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA406355851", "communityStandardTitle": [ "NM_001983.4(ERCC1):c.691T>C (p.Phe231Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.45918130A>G?assembly=hg19", "id": "chr19:g.45918130A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.45414872A>G?assembly=hg38", "id": "chr19:g.45414872A>G" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "G", "end": 45414872, "referenceAllele": "A", "start": 45414871 } ], "hgvs": [ "NC_000019.10:g.45414872A>G", "CM000681.2:g.45414872A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "G", "end": 45918130, "referenceAllele": "A", "start": 45918129 } ], "hgvs": [ "NC_000019.9:g.45918130A>G", "CM000681.1:g.45918130A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "G", "end": 50609970, "referenceAllele": "A", "start": 50609969 } ], "hgvs": [ "NC_000019.8:g.50609970A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "C", "end": 68957, "referenceAllele": "T", "start": 68956 } ], "hgvs": [ "NG_015839.2:g.68957T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002870" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 609, "referenceAllele": "T", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000710953.1:c.*102T>C" ], "proteinEffect": { "hgvs": "ENSP00000518553.1:n.*102T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS914574" }, { "coordinates": [ { "allele": "C", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000300853.8:c.691T>C" ], "proteinEffect": { "hgvs": "ENSP00000300853.3:p.Phe231Leu", "hgvsWellDefined": "ENSP00000300853.3:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS744791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000300853.8:c.691T>C" }, "RefSeq": { "hgvs": "NM_001983.4:c.691T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000300853.3:p.Phe231Leu" }, "RefSeq": { "hgvs": "NP_001974.1:p.Phe231Leu" } } } }, { "coordinates": [ { "allele": "C", "end": 883, "referenceAllele": "T", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000013807.9:c.691T>C" ], "proteinEffect": { "hgvs": "ENSP00000013807.4:p.Phe231Leu", "hgvsWellDefined": "ENSP00000013807.4:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS247504" }, { "coordinates": [ { "allele": "C", "end": 1283, "referenceAllele": "T", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000300853.7:c.691T>C" ], "proteinEffect": { "hgvs": "ENSP00000300853.2:p.Phe231Leu", "hgvsWellDefined": "ENSP00000300853.2:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS254922" }, { "coordinates": [ { "allele": "C", "end": 757, "referenceAllele": "T", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000340192.11:c.691T>C" ], "proteinEffect": { "hgvs": "ENSP00000345203.6:p.Phe231Leu", "hgvsWellDefined": "ENSP00000345203.6:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS261045" }, { "coordinates": [ { "allele": "C", "end": 575, "referenceAllele": "T", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000423698.6:c.475T>C" ], "proteinEffect": { "hgvs": "ENSP00000394875.2:p.Phe159Leu", "hgvsWellDefined": "ENSP00000394875.2:p.Phe159Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS287894" }, { "coordinates": [ { "allele": "C", "end": 404, "referenceAllele": "T", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000587888.5:c.404T>C" ], "proteinEffect": { "hgvs": "ENSP00000465225.1:n.404T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS390398" }, { "coordinates": [ { "allele": "C", "end": 1243, "referenceAllele": "T", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000589165.5:c.691T>C" ], "proteinEffect": { "hgvs": "ENSP00000468035.1:p.Phe231Leu", "hgvsWellDefined": "ENSP00000468035.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS391295" }, { "coordinates": [ { "allele": "C", "end": 586, "referenceAllele": "T", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000589381.5:c.475T>C" ], "proteinEffect": { "hgvs": "ENSP00000468548.1:p.Phe159Leu", "hgvsWellDefined": "ENSP00000468548.1:p.Phe159Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS391453" }, { "coordinates": [ { "allele": "C", "end": 166, "endIntronDirection": "-", "endIntronOffset": 1126, "referenceAllele": "T", "start": 166, "startIntronDirection": "-", "startIntronOffset": 1127 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000590701.5:c.167-1127T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS392378" }, { "coordinates": [ { "allele": "C", "end": 729, "endIntronDirection": "+", "endIntronOffset": 1949, "referenceAllele": "T", "start": 729, "startIntronDirection": "+", "startIntronOffset": 1948 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000591636.5:c.602+1949T>C" ], "proteinEffect": { "hgvs": "ENSP00000468119.1:n.602+1949T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS393008" }, { "coordinates": [ { "allele": "C", "end": 727, "referenceAllele": "T", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000592023.5:c.691T>C" ], "proteinEffect": { "hgvs": "ENSP00000468158.1:p.Phe231Leu", "hgvsWellDefined": "ENSP00000468158.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS393279" }, { "coordinates": [ { "allele": "C", "end": 855, "referenceAllele": "T", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000592083.5:c.691T>C" ], "proteinEffect": { "hgvs": "ENSP00000467183.1:p.Phe231Leu", "hgvsWellDefined": "ENSP00000467183.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS393319" }, { "coordinates": [ { "allele": "C", "end": 128, "referenceAllele": "T", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000592444.5:c.128T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS393568" }, { "coordinates": [ { "allele": "C", "end": 748, "referenceAllele": "T", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "ENST00000592905.5:n.748T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS393886" }, { "@id": "http://reg.genome.network/allele/PA2826016491", "coordinates": [ { "allele": "C", "end": 837, "referenceAllele": "T", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001166049.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001159521.1:p.Phe231Leu", "hgvsWellDefined": "NP_001159521.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS014775" }, { "@id": "http://reg.genome.network/allele/PA101580", "coordinates": [ { "allele": "C", "end": 837, "referenceAllele": "T", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001983.3:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001974.1:p.Phe231Leu", "hgvsWellDefined": "NP_001974.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS027309" }, { "@id": "http://reg.genome.network/allele/PA645415286", "coordinates": [ { "allele": "C", "end": 879, "referenceAllele": "T", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_202001.2:c.691T>C" ], "proteinEffect": { "hgvs": "NP_973730.1:p.Phe231Leu", "hgvsWellDefined": "NP_973730.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS045107" }, { "coordinates": [ { "allele": "C", "end": 768, "referenceAllele": "T", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_005258634.1:c.691T>C" ], "proteinEffect": { "hgvs": "XP_005258691.1:p.Phe231Leu", "hgvsWellDefined": "XP_005258691.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS062125" }, { "coordinates": [ { "allele": "C", "end": 1238, "referenceAllele": "T", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_005258635.2:c.691T>C" ], "proteinEffect": { "hgvs": "XP_005258692.1:p.Phe231Leu", "hgvsWellDefined": "XP_005258692.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS062126" }, { "coordinates": [ { "allele": "C", "end": 783, "referenceAllele": "T", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_005258636.3:c.691T>C" ], "proteinEffect": { "hgvs": "XP_005258693.1:p.Phe231Leu", "hgvsWellDefined": "XP_005258693.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS062127" }, { "coordinates": [ { "allele": "C", "end": 768, "referenceAllele": "T", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_005258637.1:c.691T>C" ], "proteinEffect": { "hgvs": "XP_005258694.1:p.Phe231Leu", "hgvsWellDefined": "XP_005258694.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS062128" }, { "coordinates": [ { "allele": "C", "end": 770, "referenceAllele": "T", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_011526610.1:c.691T>C" ], "proteinEffect": { "hgvs": "XP_011524912.1:p.Phe231Leu", "hgvsWellDefined": "XP_011524912.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS093712" }, { "coordinates": [ { "allele": "C", "end": 829, "referenceAllele": "T", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_005258636.4:c.691T>C" ], "proteinEffect": { "hgvs": "XP_005258693.1:p.Phe231Leu", "hgvsWellDefined": "XP_005258693.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS534853" }, { "coordinates": [ { "allele": "C", "end": 784, "referenceAllele": "T", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_011526610.2:c.691T>C" ], "proteinEffect": { "hgvs": "XP_011524912.1:p.Phe231Leu", "hgvsWellDefined": "XP_011524912.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS548333" }, { "coordinates": [ { "allele": "C", "end": 765, "referenceAllele": "T", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_017026459.1:c.691T>C" ], "proteinEffect": { "hgvs": "XP_016881948.1:p.Phe231Leu", "hgvsWellDefined": "XP_016881948.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576604" }, { "coordinates": [ { "allele": "C", "end": 1354, "referenceAllele": "T", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_017026460.2:c.691T>C" ], "proteinEffect": { "hgvs": "XP_016881949.1:p.Phe231Leu", "hgvsWellDefined": "XP_016881949.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576605" }, { "coordinates": [ { "allele": "C", "end": 867, "referenceAllele": "T", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_017026461.1:c.691T>C" ], "proteinEffect": { "hgvs": "XP_016881950.1:p.Phe231Leu", "hgvsWellDefined": "XP_016881950.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576606" }, { "coordinates": [ { "allele": "C", "end": 832, "referenceAllele": "T", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_017026462.1:c.691T>C" ], "proteinEffect": { "hgvs": "XP_016881951.1:p.Phe231Leu", "hgvsWellDefined": "XP_016881951.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576607" }, { "coordinates": [ { "allele": "C", "end": 824, "referenceAllele": "T", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_017026463.1:c.691T>C" ], "proteinEffect": { "hgvs": "XP_016881952.1:p.Phe231Leu", "hgvsWellDefined": "XP_016881952.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576608" }, { "coordinates": [ { "allele": "C", "end": 825, "referenceAllele": "T", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_017026464.1:c.691T>C" ], "proteinEffect": { "hgvs": "XP_016881953.1:p.Phe231Leu", "hgvsWellDefined": "XP_016881953.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576609" }, { "coordinates": [ { "allele": "C", "end": 1238, "referenceAllele": "T", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_017026465.1:c.691T>C" ], "proteinEffect": { "hgvs": "XP_016881954.1:p.Phe231Leu", "hgvsWellDefined": "XP_016881954.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576610" }, { "coordinates": [ { "allele": "C", "end": 872, "referenceAllele": "T", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XM_017026466.1:c.691T>C" ], "proteinEffect": { "hgvs": "XP_016881955.1:p.Phe231Leu", "hgvsWellDefined": "XP_016881955.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS576611" }, { "coordinates": [ { "allele": "C", "end": 768, "referenceAllele": "T", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XR_001753631.1:n.768T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS600114" }, { "coordinates": [ { "allele": "C", "end": 1238, "referenceAllele": "T", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "XR_001753632.1:n.1238T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS600115" }, { "@id": "http://reg.genome.network/allele/PA2826016491", "coordinates": [ { "allele": "C", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001166049.2:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001159521.1:p.Phe231Leu", "hgvsWellDefined": "NP_001159521.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS678451" }, { "@id": "http://reg.genome.network/allele/PA2828329307", "coordinates": [ { "allele": "C", "end": 793, "referenceAllele": "T", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369408.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356337.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356337.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691633" }, { "@id": "http://reg.genome.network/allele/PA2828329372", "coordinates": [ { "allele": "C", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369409.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356338.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356338.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691634" }, { "@id": "http://reg.genome.network/allele/PA2828329437", "coordinates": [ { "allele": "C", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369410.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356339.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356339.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691635" }, { "@id": "http://reg.genome.network/allele/PA2828329500", "coordinates": [ { "allele": "C", "end": 845, "referenceAllele": "T", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369411.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356340.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356340.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691636" }, { "@id": "http://reg.genome.network/allele/PA2828329563", "coordinates": [ { "allele": "C", "end": 770, "referenceAllele": "T", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369412.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356341.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356341.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691637" }, { "@id": "http://reg.genome.network/allele/PA2828329623", "coordinates": [ { "allele": "C", "end": 842, "referenceAllele": "T", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369413.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356342.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356342.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691638" }, { "@id": "http://reg.genome.network/allele/PA2828329683", "coordinates": [ { "allele": "C", "end": 896, "referenceAllele": "T", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369414.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356343.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356343.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691639" }, { "@id": "http://reg.genome.network/allele/PA2828329743", "coordinates": [ { "allele": "C", "end": 793, "referenceAllele": "T", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369415.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356344.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356344.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691640" }, { "@id": "http://reg.genome.network/allele/PA2828329803", "coordinates": [ { "allele": "C", "end": 845, "referenceAllele": "T", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369416.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356345.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356345.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691641" }, { "@id": "http://reg.genome.network/allele/PA2828329863", "coordinates": [ { "allele": "C", "end": 896, "referenceAllele": "T", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369417.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356346.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356346.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691642" }, { "@id": "http://reg.genome.network/allele/PA2828329921", "coordinates": [ { "allele": "C", "end": 793, "referenceAllele": "T", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369418.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356347.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356347.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691643" }, { "@id": "http://reg.genome.network/allele/PA2828329979", "coordinates": [ { "allele": "C", "end": 845, "referenceAllele": "T", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001369419.1:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001356348.1:p.Phe231Leu", "hgvsWellDefined": "NP_001356348.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691644" }, { "@id": "http://reg.genome.network/allele/PA101580", "coordinates": [ { "allele": "C", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_001983.4:c.691T>C" ], "proteinEffect": { "hgvs": "NP_001974.1:p.Phe231Leu", "hgvsWellDefined": "NP_001974.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS695420", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000300853.8:c.691T>C" }, "RefSeq": { "hgvs": "NM_001983.4:c.691T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000300853.3:p.Phe231Leu" }, "RefSeq": { "hgvs": "NP_001974.1:p.Phe231Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA645415286", "coordinates": [ { "allele": "C", "end": 845, "referenceAllele": "T", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN003433", "geneNCBI_id": 2067, "geneSymbol": "ERCC1", "hgvs": [ "NM_202001.3:c.691T>C" ], "proteinEffect": { "hgvs": "NP_973730.1:p.Phe231Leu", "hgvsWellDefined": "NP_973730.1:p.Phe231Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS701600" } ], "type": "nucleotide" }