{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350471142", "communityStandardTitle": [ "NM_212482.4(FN1):c.5872A>C (p.Ser1958Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.216241236T>G?assembly=hg19", "id": "chr2:g.216241236T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.215376513T>G?assembly=hg38", "id": "chr2:g.215376513T>G" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 215376513, "referenceAllele": "T", "start": 215376512 } ], "hgvs": [ "NC_000002.12:g.215376513T>G", "CM000664.2:g.215376513T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 216241236, "referenceAllele": "T", "start": 216241235 } ], "hgvs": [ "NC_000002.11:g.216241236T>G", "CM000664.1:g.216241236T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 215949481, "referenceAllele": "T", "start": 215949480 } ], "hgvs": [ "NC_000002.10:g.215949481T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "C", "end": 64556, "referenceAllele": "A", "start": 64555 } ], "hgvs": [ "NG_012196.1:g.64556A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002279" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 6138, "referenceAllele": "A", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000354785.11:c.5872A>C" ], "proteinEffect": { "hgvs": "ENSP00000346839.4:p.Ser1958Arg", "hgvsWellDefined": "ENSP00000346839.4:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS748601", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354785.11:c.5872A>C" }, "RefSeq": { "hgvs": "NM_212482.4:c.5872A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346839.4:p.Ser1958Arg" }, "RefSeq": { "hgvs": "NP_997647.2:p.Ser1958Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 6138, "referenceAllele": "A", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000323926.10:c.5872A>C" ], "proteinEffect": { "hgvs": "ENSP00000323534.6:p.Ser1958Arg", "hgvsWellDefined": "ENSP00000323534.6:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS258270" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000336916.8:c.5599A>C" ], "proteinEffect": { "hgvs": "ENSP00000338200.4:p.Ser1867Arg", "hgvsWellDefined": "ENSP00000338200.4:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS260391" }, { "coordinates": [ { "allele": "C", "end": 6242, "referenceAllele": "A", "start": 6241 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000354785.8:c.5872A>C" ], "proteinEffect": { "hgvs": "ENSP00000346839.4:p.Ser1958Arg", "hgvsWellDefined": "ENSP00000346839.4:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS263239" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000356005.8:c.5329A>C" ], "proteinEffect": { "hgvs": "ENSP00000348285.4:p.Ser1777Arg", "hgvsWellDefined": "ENSP00000348285.4:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS263618" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000357867.8:c.5329A>C" ], "proteinEffect": { "hgvs": "ENSP00000350534.4:p.Ser1777Arg", "hgvsWellDefined": "ENSP00000350534.4:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS264256" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000359671.5:c.5599A>C" ], "proteinEffect": { "hgvs": "ENSP00000352696.1:p.Ser1867Arg", "hgvsWellDefined": "ENSP00000352696.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS264865" }, { "coordinates": [ { "allele": "C", "end": 5594, "referenceAllele": "A", "start": 5593 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000421182.5:c.5329A>C" ], "proteinEffect": { "hgvs": "ENSP00000394423.1:p.Ser1777Arg", "hgvsWellDefined": "ENSP00000394423.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS286674" }, { "coordinates": [ { "allele": "C", "end": 5867, "referenceAllele": "A", "start": 5866 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000432072.6:c.5602A>C" ], "proteinEffect": { "hgvs": "ENSP00000399538.2:p.Ser1868Arg", "hgvsWellDefined": "ENSP00000399538.2:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS291924" }, { "coordinates": [ { "allele": "C", "end": 5600, "referenceAllele": "A", "start": 5599 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000443816.5:c.5329A>C" ], "proteinEffect": { "hgvs": "ENSP00000415018.1:p.Ser1777Arg", "hgvsWellDefined": "ENSP00000415018.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS297521" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000446046.5:c.5599A>C" ], "proteinEffect": { "hgvs": "ENSP00000410422.1:p.Ser1867Arg", "hgvsWellDefined": "ENSP00000410422.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS298559" }, { "coordinates": [ { "allele": "C", "end": 1750, "referenceAllele": "A", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000456923.5:c.1750A>C" ], "proteinEffect": { "hgvs": "ENSP00000416139.1:p.Ser584Arg", "hgvsWellDefined": "ENSP00000416139.1:p.Ser584Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS303705" }, { "coordinates": [ { "allele": "C", "end": 957, "referenceAllele": "A", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000474036.1:n.957A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS315636" }, { "coordinates": [ { "allele": "C", "end": 7009, "referenceAllele": "A", "start": 7008 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "ENST00000492816.6:n.7009A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS330119" }, { "coordinates": [ { "allele": "C", "end": 6140, "referenceAllele": "A", "start": 6139 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001306129.1:c.5872A>C" ], "proteinEffect": { "hgvs": "NP_001293058.1:p.Ser1958Arg", "hgvsWellDefined": "NP_001293058.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS025986" }, { "coordinates": [ { "allele": "C", "end": 5870, "referenceAllele": "A", "start": 5869 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001306130.1:c.5602A>C" ], "proteinEffect": { "hgvs": "NP_001293059.1:p.Ser1868Arg", "hgvsWellDefined": "NP_001293059.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS025987" }, { "coordinates": [ { "allele": "C", "end": 5597, "referenceAllele": "A", "start": 5596 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001306131.1:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_001293060.1:p.Ser1777Arg", "hgvsWellDefined": "NP_001293060.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS025988" }, { "coordinates": [ { "allele": "C", "end": 5597, "referenceAllele": "A", "start": 5596 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001306132.1:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_001293061.1:p.Ser1777Arg", "hgvsWellDefined": "NP_001293061.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS025989" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_002026.2:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_002017.1:p.Ser1867Arg", "hgvsWellDefined": "NP_002017.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS027351" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212474.1:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_997639.1:p.Ser1777Arg", "hgvsWellDefined": "NP_997639.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS045557" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212476.1:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_997641.1:p.Ser1777Arg", "hgvsWellDefined": "NP_997641.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS045558" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212478.1:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_997643.1:p.Ser1867Arg", "hgvsWellDefined": "NP_997643.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS045559" }, { "coordinates": [ { "allele": "C", "end": 6138, "referenceAllele": "A", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212482.1:c.5872A>C" ], "proteinEffect": { "hgvs": "NP_997647.1:p.Ser1958Arg", "hgvsWellDefined": "NP_997647.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS045562" }, { "coordinates": [ { "allele": "C", "end": 6237, "referenceAllele": "A", "start": 6236 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246397.1:c.5872A>C" ], "proteinEffect": { "hgvs": "XP_005246454.1:p.Ser1958Arg", "hgvsWellDefined": "XP_005246454.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057604" }, { "coordinates": [ { "allele": "C", "end": 6237, "referenceAllele": "A", "start": 6236 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246398.1:c.5872A>C" ], "proteinEffect": { "hgvs": "XP_005246455.1:p.Ser1958Arg", "hgvsWellDefined": "XP_005246455.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057605" }, { "coordinates": [ { "allele": "C", "end": 6237, "referenceAllele": "A", "start": 6236 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246399.1:c.5872A>C" ], "proteinEffect": { "hgvs": "XP_005246456.1:p.Ser1958Arg", "hgvsWellDefined": "XP_005246456.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057606" }, { "coordinates": [ { "allele": "C", "end": 6237, "referenceAllele": "A", "start": 6236 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246401.1:c.5872A>C" ], "proteinEffect": { "hgvs": "XP_005246458.1:p.Ser1958Arg", "hgvsWellDefined": "XP_005246458.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057607" }, { "coordinates": [ { "allele": "C", "end": 6237, "referenceAllele": "A", "start": 6236 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246402.1:c.5872A>C" ], "proteinEffect": { "hgvs": "XP_005246459.1:p.Ser1958Arg", "hgvsWellDefined": "XP_005246459.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057608" }, { "coordinates": [ { "allele": "C", "end": 5967, "referenceAllele": "A", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246403.1:c.5602A>C" ], "proteinEffect": { "hgvs": "XP_005246460.1:p.Ser1868Arg", "hgvsWellDefined": "XP_005246460.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057609" }, { "coordinates": [ { "allele": "C", "end": 5964, "referenceAllele": "A", "start": 5963 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246404.1:c.5599A>C" ], "proteinEffect": { "hgvs": "XP_005246461.1:p.Ser1867Arg", "hgvsWellDefined": "XP_005246461.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057610" }, { "coordinates": [ { "allele": "C", "end": 5967, "referenceAllele": "A", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246405.1:c.5602A>C" ], "proteinEffect": { "hgvs": "XP_005246462.1:p.Ser1868Arg", "hgvsWellDefined": "XP_005246462.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057611" }, { "coordinates": [ { "allele": "C", "end": 5964, "referenceAllele": "A", "start": 5963 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246406.1:c.5599A>C" ], "proteinEffect": { "hgvs": "XP_005246463.1:p.Ser1867Arg", "hgvsWellDefined": "XP_005246463.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057612" }, { "coordinates": [ { "allele": "C", "end": 6237, "referenceAllele": "A", "start": 6236 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246407.1:c.5872A>C" ], "proteinEffect": { "hgvs": "XP_005246464.1:p.Ser1958Arg", "hgvsWellDefined": "XP_005246464.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057613" }, { "coordinates": [ { "allele": "C", "end": 5967, "referenceAllele": "A", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246408.1:c.5602A>C" ], "proteinEffect": { "hgvs": "XP_005246465.1:p.Ser1868Arg", "hgvsWellDefined": "XP_005246465.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057614" }, { "coordinates": [ { "allele": "C", "end": 5964, "referenceAllele": "A", "start": 5963 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246409.1:c.5599A>C" ], "proteinEffect": { "hgvs": "XP_005246466.1:p.Ser1867Arg", "hgvsWellDefined": "XP_005246466.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057615" }, { "coordinates": [ { "allele": "C", "end": 5967, "referenceAllele": "A", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246410.1:c.5602A>C" ], "proteinEffect": { "hgvs": "XP_005246467.1:p.Ser1868Arg", "hgvsWellDefined": "XP_005246467.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057616" }, { "coordinates": [ { "allele": "C", "end": 5967, "referenceAllele": "A", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246411.1:c.5602A>C" ], "proteinEffect": { "hgvs": "XP_005246468.1:p.Ser1868Arg", "hgvsWellDefined": "XP_005246468.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057617" }, { "coordinates": [ { "allele": "C", "end": 5694, "referenceAllele": "A", "start": 5693 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246412.1:c.5329A>C" ], "proteinEffect": { "hgvs": "XP_005246469.1:p.Ser1777Arg", "hgvsWellDefined": "XP_005246469.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057618" }, { "coordinates": [ { "allele": "C", "end": 5964, "referenceAllele": "A", "start": 5963 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246414.1:c.5599A>C" ], "proteinEffect": { "hgvs": "XP_005246471.1:p.Ser1867Arg", "hgvsWellDefined": "XP_005246471.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057619" }, { "coordinates": [ { "allele": "C", "end": 5694, "referenceAllele": "A", "start": 5693 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_005246416.1:c.5329A>C" ], "proteinEffect": { "hgvs": "XP_005246473.1:p.Ser1777Arg", "hgvsWellDefined": "XP_005246473.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS057620" }, { "coordinates": [ { "allele": "C", "end": 5868, "referenceAllele": "A", "start": 5867 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365517.1:c.5602A>C" ], "proteinEffect": { "hgvs": "NP_001352446.1:p.Ser1868Arg", "hgvsWellDefined": "NP_001352446.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS524134" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365518.1:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_001352447.1:p.Ser1867Arg", "hgvsWellDefined": "NP_001352447.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS524135" }, { "coordinates": [ { "allele": "C", "end": 5868, "referenceAllele": "A", "start": 5867 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365519.1:c.5602A>C" ], "proteinEffect": { "hgvs": "NP_001352448.1:p.Ser1868Arg", "hgvsWellDefined": "NP_001352448.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS524136" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365520.1:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_001352449.1:p.Ser1867Arg", "hgvsWellDefined": "NP_001352449.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS524137" }, { "coordinates": [ { "allele": "C", "end": 5868, "referenceAllele": "A", "start": 5867 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365521.1:c.5602A>C" ], "proteinEffect": { "hgvs": "NP_001352450.1:p.Ser1868Arg", "hgvsWellDefined": "NP_001352450.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS524138" }, { "coordinates": [ { "allele": "C", "end": 5868, "referenceAllele": "A", "start": 5867 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365522.1:c.5602A>C" ], "proteinEffect": { "hgvs": "NP_001352451.1:p.Ser1868Arg", "hgvsWellDefined": "NP_001352451.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS524139" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365523.1:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_001352452.1:p.Ser1777Arg", "hgvsWellDefined": "NP_001352452.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS524140" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365524.1:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_001352453.1:p.Ser1867Arg", "hgvsWellDefined": "NP_001352453.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS524141" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_002026.3:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_002017.1:p.Ser1867Arg", "hgvsWellDefined": "NP_002017.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS524949" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212474.2:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_997639.1:p.Ser1777Arg", "hgvsWellDefined": "NP_997639.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS527057" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212476.2:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_997641.1:p.Ser1777Arg", "hgvsWellDefined": "NP_997641.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS527058" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212478.2:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_997643.1:p.Ser1867Arg", "hgvsWellDefined": "NP_997643.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS527059" }, { "coordinates": [ { "allele": "C", "end": 6138, "referenceAllele": "A", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212482.2:c.5872A>C" ], "proteinEffect": { "hgvs": "NP_997647.1:p.Ser1958Arg", "hgvsWellDefined": "NP_997647.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS527061" }, { "coordinates": [ { "allele": "C", "end": 6237, "referenceAllele": "A", "start": 6236 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_017003692.1:c.5872A>C" ], "proteinEffect": { "hgvs": "XP_016859181.1:p.Ser1958Arg", "hgvsWellDefined": "XP_016859181.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS559365" }, { "coordinates": [ { "allele": "C", "end": 5694, "referenceAllele": "A", "start": 5693 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_017003695.1:c.5329A>C" ], "proteinEffect": { "hgvs": "XP_016859184.1:p.Ser1777Arg", "hgvsWellDefined": "XP_016859184.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS559366" }, { "coordinates": [ { "allele": "C", "end": 6237, "referenceAllele": "A", "start": 6236 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_024452769.1:c.5872A>C" ], "proteinEffect": { "hgvs": "XP_024308537.1:p.Ser1958Arg", "hgvsWellDefined": "XP_024308537.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586160" }, { "coordinates": [ { "allele": "C", "end": 5967, "referenceAllele": "A", "start": 5966 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "XM_024452770.1:c.5602A>C" ], "proteinEffect": { "hgvs": "XP_024308538.1:p.Ser1868Arg", "hgvsWellDefined": "XP_024308538.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS586161" }, { "coordinates": [ { "allele": "G", "end": 132, "endIntronDirection": "+", "endIntronOffset": 2976, "referenceAllele": "T", "start": 132, "startIntronDirection": "+", "startIntronOffset": 2975 } ], "hgvs": [ "XR_002959450.1:n.132+2976T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS605383" }, { "coordinates": [ { "allele": "C", "end": 6138, "referenceAllele": "A", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212482.3:c.5872A>C" ], "proteinEffect": { "hgvs": "NP_997647.1:p.Ser1958Arg", "hgvsWellDefined": "NP_997647.1:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS673326" }, { "coordinates": [ { "allele": "C", "end": 6138, "referenceAllele": "A", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001306129.2:c.5872A>C" ], "proteinEffect": { "hgvs": "NP_001293058.2:p.Ser1958Arg", "hgvsWellDefined": "NP_001293058.2:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS717170" }, { "coordinates": [ { "allele": "C", "end": 5868, "referenceAllele": "A", "start": 5867 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001306130.2:c.5602A>C" ], "proteinEffect": { "hgvs": "NP_001293059.2:p.Ser1868Arg", "hgvsWellDefined": "NP_001293059.2:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS717171" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001306131.2:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_001293060.2:p.Ser1777Arg", "hgvsWellDefined": "NP_001293060.2:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS717172" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001306132.2:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_001293061.2:p.Ser1777Arg", "hgvsWellDefined": "NP_001293061.2:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS717173" }, { "coordinates": [ { "allele": "C", "end": 5868, "referenceAllele": "A", "start": 5867 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365517.2:c.5602A>C" ], "proteinEffect": { "hgvs": "NP_001352446.1:p.Ser1868Arg", "hgvsWellDefined": "NP_001352446.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720917" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365518.2:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_001352447.1:p.Ser1867Arg", "hgvsWellDefined": "NP_001352447.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720918" }, { "coordinates": [ { "allele": "C", "end": 5868, "referenceAllele": "A", "start": 5867 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365519.2:c.5602A>C" ], "proteinEffect": { "hgvs": "NP_001352448.1:p.Ser1868Arg", "hgvsWellDefined": "NP_001352448.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720919" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365520.2:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_001352449.1:p.Ser1867Arg", "hgvsWellDefined": "NP_001352449.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720920" }, { "coordinates": [ { "allele": "C", "end": 5868, "referenceAllele": "A", "start": 5867 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365521.2:c.5602A>C" ], "proteinEffect": { "hgvs": "NP_001352450.1:p.Ser1868Arg", "hgvsWellDefined": "NP_001352450.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720921" }, { "coordinates": [ { "allele": "C", "end": 5868, "referenceAllele": "A", "start": 5867 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365522.2:c.5602A>C" ], "proteinEffect": { "hgvs": "NP_001352451.1:p.Ser1868Arg", "hgvsWellDefined": "NP_001352451.1:p.Ser1868Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720922" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365523.2:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_001352452.1:p.Ser1777Arg", "hgvsWellDefined": "NP_001352452.1:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720923" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_001365524.2:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_001352453.1:p.Ser1867Arg", "hgvsWellDefined": "NP_001352453.1:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS720924" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_002026.4:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_002017.2:p.Ser1867Arg", "hgvsWellDefined": "NP_002017.2:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS727236" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212474.3:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_997639.2:p.Ser1777Arg", "hgvsWellDefined": "NP_997639.2:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS730147" }, { "coordinates": [ { "allele": "C", "end": 5595, "referenceAllele": "A", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212476.3:c.5329A>C" ], "proteinEffect": { "hgvs": "NP_997641.2:p.Ser1777Arg", "hgvsWellDefined": "NP_997641.2:p.Ser1777Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS730148" }, { "coordinates": [ { "allele": "C", "end": 5865, "referenceAllele": "A", "start": 5864 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212478.3:c.5599A>C" ], "proteinEffect": { "hgvs": "NP_997643.2:p.Ser1867Arg", "hgvsWellDefined": "NP_997643.2:p.Ser1867Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS730149" }, { "coordinates": [ { "allele": "C", "end": 6138, "referenceAllele": "A", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN003778", "geneNCBI_id": 2335, "geneSymbol": "FN1", "hgvs": [ "NM_212482.4:c.5872A>C" ], "proteinEffect": { "hgvs": "NP_997647.2:p.Ser1958Arg", "hgvsWellDefined": "NP_997647.2:p.Ser1958Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS730150", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354785.11:c.5872A>C" }, "RefSeq": { "hgvs": "NM_212482.4:c.5872A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346839.4:p.Ser1958Arg" }, "RefSeq": { "hgvs": "NP_997647.2:p.Ser1958Arg" } } } } ], "type": "nucleotide" }