{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1859481", "communityStandardTitle": [ "NM_000312.4(PROC):c.889G>C (p.Asp297His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=628434[alleleid]", "alleleId": 628434, "preferredName": "NM_000312.4(PROC):c.889G>C (p.Asp297His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/663591", "RCV": [ "RCV000821496", "RCV002487843" ], "variationId": 663591 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-128186025-G-C", "id": "2-128186025-G-C", "variant": "2:128186025 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.128186025G>C?assembly=hg19", "id": "chr2:g.128186025G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.127428449G>C?assembly=hg38", "id": "chr2:g.127428449G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199469471", "rs": 199469471 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-128186025-G-C?dataset=gnomad_r2_1", "id": "2-128186025-G-C", "variant": "2:128186025 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-127428449-G-C?dataset=gnomad_r3", "id": "2-127428449-G-C", "variant": "2:127428449 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-127428449-G-C?dataset=gnomad_r4", "id": "2-127428449-G-C", "variant": "2:127428449 G / C" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 127428449, "referenceAllele": "G", "start": 127428448 } ], "hgvs": [ "NC_000002.12:g.127428449G>C", "CM000664.2:g.127428449G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 128186025, "referenceAllele": "G", "start": 128186024 } ], "hgvs": [ "NC_000002.11:g.128186025G>C", "CM000664.1:g.128186025G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 127902495, "referenceAllele": "G", "start": 127902494 } ], "hgvs": [ "NC_000002.10:g.127902495G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "C", "end": 15030, "referenceAllele": "G", "start": 15029 } ], "hgvs": [ "NG_016323.1:g.15030G>C", "LRG_599:g.15030G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS003093" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 976, "referenceAllele": "G", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "ENST00000234071.8:c.889G>C" ], "proteinEffect": { "hgvs": "ENSP00000234071.4:p.Asp297His", "hgvsWellDefined": "ENSP00000234071.4:p.Asp297His" }, "referenceSequence": "http://reg.genome.network/refseq/RS740940", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234071.8:c.889G>C" }, "RefSeq": { "hgvs": "NM_000312.4:c.889G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234071.4:p.Asp297His" }, "RefSeq": { "hgvs": "NP_000303.1:p.Asp297His" } } } }, { "coordinates": [ { "allele": "C", "end": 976, "referenceAllele": "G", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "ENST00000234071.7:c.889G>C" ], "proteinEffect": { "hgvs": "ENSP00000234071.3:p.Asp297His", "hgvsWellDefined": "ENSP00000234071.3:p.Asp297His" }, "referenceSequence": "http://reg.genome.network/refseq/RS248899" }, { "coordinates": [ { "allele": "C", "end": 213, "referenceAllele": "G", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "ENST00000402125.2:c.213G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS279415" }, { "coordinates": [ { "allele": "C", "end": 1052, "referenceAllele": "G", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "ENST00000409048.1:c.991G>C" ], "proteinEffect": { "hgvs": "ENSP00000386679.1:p.Asp331His", "hgvsWellDefined": "ENSP00000386679.1:p.Asp331His" }, "referenceSequence": "http://reg.genome.network/refseq/RS281212" }, { "@id": "http://reg.genome.network/allele/PA915959745", "coordinates": [ { "allele": "C", "end": 983, "referenceAllele": "G", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_000312.3:c.889G>C", "LRG_599t1:c.889G>C" ], "proteinEffect": { "hgvs": "NP_000303.1:p.Asp297His", "hgvsWellDefined": "NP_000303.1:p.Asp297His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006374" }, { "coordinates": [ { "allele": "C", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_005263715.3:c.1072G>C" ], "proteinEffect": { "hgvs": "XP_005263772.1:p.Asp358His", "hgvsWellDefined": "XP_005263772.1:p.Asp358His" }, "referenceSequence": "http://reg.genome.network/refseq/RS063924" }, { "coordinates": [ { "allele": "C", "end": 1096, "referenceAllele": "G", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_005263716.3:c.1054G>C" ], "proteinEffect": { "hgvs": "XP_005263773.1:p.Asp352His", "hgvsWellDefined": "XP_005263773.1:p.Asp352His" }, "referenceSequence": "http://reg.genome.network/refseq/RS063925" }, { "coordinates": [ { "allele": "C", "end": 979, "referenceAllele": "G", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_005263717.3:c.952G>C" ], "proteinEffect": { "hgvs": "XP_005263774.1:p.Asp318His", "hgvsWellDefined": "XP_005263774.1:p.Asp318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS063926" }, { "coordinates": [ { "allele": "G", "end": 1331, "endIntronDirection": "-", "endIntronOffset": 184, "referenceAllele": "C", "start": 1331, "startIntronDirection": "-", "startIntronOffset": 185 } ], "hgvs": [ "XR_923313.1:n.1332-185C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS120375" }, { "coordinates": [ { "allele": "C", "end": 979, "referenceAllele": "G", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_005263717.4:c.952G>C" ], "proteinEffect": { "hgvs": "XP_005263774.1:p.Asp318His", "hgvsWellDefined": "XP_005263774.1:p.Asp318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS535743" }, { "coordinates": [ { "allele": "C", "end": 1147, "referenceAllele": "G", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_017004505.1:c.1132G>C" ], "proteinEffect": { "hgvs": "XP_016859994.1:p.Asp378His", "hgvsWellDefined": "XP_016859994.1:p.Asp378His" }, "referenceSequence": "http://reg.genome.network/refseq/RS559993" }, { "coordinates": [ { "allele": "C", "end": 1327, "referenceAllele": "G", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453002.1:c.1234G>C" ], "proteinEffect": { "hgvs": "XP_024308770.1:p.Asp412His", "hgvsWellDefined": "XP_024308770.1:p.Asp412His" }, "referenceSequence": "http://reg.genome.network/refseq/RS586389" }, { "coordinates": [ { "allele": "C", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453003.1:c.1174G>C" ], "proteinEffect": { "hgvs": "XP_024308771.1:p.Asp392His", "hgvsWellDefined": "XP_024308771.1:p.Asp392His" }, "referenceSequence": "http://reg.genome.network/refseq/RS586390" }, { "coordinates": [ { "allele": "C", "end": 1127, "referenceAllele": "G", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453004.1:c.1072G>C" ], "proteinEffect": { "hgvs": "XP_024308772.1:p.Asp358His", "hgvsWellDefined": "XP_024308772.1:p.Asp358His" }, "referenceSequence": "http://reg.genome.network/refseq/RS586391" }, { "coordinates": [ { "allele": "C", "end": 1098, "referenceAllele": "G", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453005.1:c.1054G>C" ], "proteinEffect": { "hgvs": "XP_024308773.1:p.Asp352His", "hgvsWellDefined": "XP_024308773.1:p.Asp352His" }, "referenceSequence": "http://reg.genome.network/refseq/RS586392" }, { "coordinates": [ { "allele": "C", "end": 1079, "referenceAllele": "G", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "XM_024453006.1:c.991G>C" ], "proteinEffect": { "hgvs": "XP_024308774.1:p.Asp331His", "hgvsWellDefined": "XP_024308774.1:p.Asp331His" }, "referenceSequence": "http://reg.genome.network/refseq/RS586393" }, { "coordinates": [ { "allele": "G", "end": 3606, "endIntronDirection": "-", "endIntronOffset": 184, "referenceAllele": "C", "start": 3606, "startIntronDirection": "-", "startIntronOffset": 185 } ], "hgvs": [ "XR_001739705.1:n.3607-185C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS590010" }, { "coordinates": [ { "allele": "G", "end": 4042, "endIntronDirection": "-", "endIntronOffset": 184, "referenceAllele": "C", "start": 4042, "startIntronDirection": "-", "startIntronOffset": 185 } ], "hgvs": [ "XR_923313.2:n.4043-185C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS607340" }, { "@id": "http://reg.genome.network/allele/PA915959745", "coordinates": [ { "allele": "C", "end": 976, "referenceAllele": "G", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_000312.4:c.889G>C" ], "proteinEffect": { "hgvs": "NP_000303.1:p.Asp297His", "hgvsWellDefined": "NP_000303.1:p.Asp297His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674786", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234071.8:c.889G>C" }, "RefSeq": { "hgvs": "NM_000312.4:c.889G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234071.4:p.Asp297His" }, "RefSeq": { "hgvs": "NP_000303.1:p.Asp297His" } } } }, { "@id": "http://reg.genome.network/allele/PA2828620417", "coordinates": [ { "allele": "C", "end": 1092, "referenceAllele": "G", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375602.1:c.1072G>C" ], "proteinEffect": { "hgvs": "NP_001362531.1:p.Asp358His", "hgvsWellDefined": "NP_001362531.1:p.Asp358His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693696" }, { "@id": "http://reg.genome.network/allele/PA2828620710", "coordinates": [ { "allele": "C", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375603.1:c.1054G>C" ], "proteinEffect": { "hgvs": "NP_001362532.1:p.Asp352His", "hgvsWellDefined": "NP_001362532.1:p.Asp352His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693697" }, { "@id": "http://reg.genome.network/allele/PA2828620994", "coordinates": [ { "allele": "C", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375604.1:c.952G>C" ], "proteinEffect": { "hgvs": "NP_001362533.1:p.Asp318His", "hgvsWellDefined": "NP_001362533.1:p.Asp318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693698" }, { "@id": "http://reg.genome.network/allele/PA2828621280", "coordinates": [ { "allele": "C", "end": 1078, "referenceAllele": "G", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375605.1:c.991G>C" ], "proteinEffect": { "hgvs": "NP_001362534.1:p.Asp331His", "hgvsWellDefined": "NP_001362534.1:p.Asp331His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693699" }, { "@id": "http://reg.genome.network/allele/PA2828621567", "coordinates": [ { "allele": "C", "end": 1077, "referenceAllele": "G", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375606.1:c.1057G>C" ], "proteinEffect": { "hgvs": "NP_001362535.1:p.Asp353His", "hgvsWellDefined": "NP_001362535.1:p.Asp353His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693700" }, { "@id": "http://reg.genome.network/allele/PA2573073855", "coordinates": [ { "allele": "C", "end": 1095, "referenceAllele": "G", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375607.1:c.1075G>C" ], "proteinEffect": { "hgvs": "NP_001362536.1:p.Asp359His", "hgvsWellDefined": "NP_001362536.1:p.Asp359His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693701" }, { "@id": "http://reg.genome.network/allele/PA2828621945", "coordinates": [ { "allele": "C", "end": 919, "referenceAllele": "G", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375608.1:c.832G>C" ], "proteinEffect": { "hgvs": "NP_001362537.1:p.Asp278His", "hgvsWellDefined": "NP_001362537.1:p.Asp278His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693702" }, { "@id": "http://reg.genome.network/allele/PA2828622213", "coordinates": [ { "allele": "C", "end": 885, "referenceAllele": "G", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375609.1:c.865G>C" ], "proteinEffect": { "hgvs": "NP_001362538.1:p.Asp289His", "hgvsWellDefined": "NP_001362538.1:p.Asp289His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693703" }, { "@id": "http://reg.genome.network/allele/PA2828622488", "coordinates": [ { "allele": "C", "end": 970, "referenceAllele": "G", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375610.1:c.883G>C" ], "proteinEffect": { "hgvs": "NP_001362539.1:p.Asp295His", "hgvsWellDefined": "NP_001362539.1:p.Asp295His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693704" }, { "@id": "http://reg.genome.network/allele/PA2828622765", "coordinates": [ { "allele": "C", "end": 992, "referenceAllele": "G", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375611.1:c.889G>C" ], "proteinEffect": { "hgvs": "NP_001362540.1:p.Asp297His", "hgvsWellDefined": "NP_001362540.1:p.Asp297His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693705" }, { "@id": "http://reg.genome.network/allele/PA2828623077", "coordinates": [ { "allele": "C", "end": 1135, "referenceAllele": "G", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375613.1:c.889G>C" ], "proteinEffect": { "hgvs": "NP_001362542.1:p.Asp297His", "hgvsWellDefined": "NP_001362542.1:p.Asp297His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693707" } ], "type": "nucleotide" }