{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117241", "communityStandardTitle": [ "NM_016362.5(GHRL):c.214C>A (p.Leu72Met)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4987653" }, { "active": false, "id": "COSM4987654" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20101[alleleid]", "alleleId": 20101, "preferredName": "NM_016362.5(GHRL):c.214C>A (p.Leu72Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5062", "RCV": [ "RCV000005366", "RCV000005365", "RCV001618208", "RCV002482831" ], "variationId": 5062 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-10331457-G-T", "id": "3-10331457-G-T", "variant": "3:10331457 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.10331457G>T?assembly=hg19", "id": "chr3:g.10331457G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.10289773G>T?assembly=hg38", "id": "chr3:g.10289773G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/696217", "rs": 696217 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-10331457-G-T?dataset=gnomad_r2_1", "id": "3-10331457-G-T", "variant": "3:10331457 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-10289773-G-T?dataset=gnomad_r3", "id": "3-10289773-G-T", "variant": "3:10289773 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-10289773-G-T?dataset=gnomad_r4", "id": "3-10289773-G-T", "variant": "3:10289773 G / T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 10289773, "referenceAllele": "G", "start": 10289772 } ], "hgvs": [ "NC_000003.12:g.10289773G>T", "CM000665.2:g.10289773G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 10331457, "referenceAllele": "G", "start": 10331456 } ], "hgvs": [ "NC_000003.11:g.10331457G>T", "CM000665.1:g.10331457G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 10306457, "referenceAllele": "G", "start": 10306456 } ], "hgvs": [ "NC_000003.10:g.10306457G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 8175, "referenceAllele": "C", "start": 8174 } ], "hgvs": [ "NG_011560.1:g.8175C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001820" }, { "coordinates": [ { "allele": "T", "end": 13822, "referenceAllele": "G", "start": 13821 } ], "hgvs": [ "NG_033090.1:g.13822G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005420" }, { "coordinates": [ { "allele": "T", "end": 13822, "referenceAllele": "G", "start": 13821 } ], "hgvs": [ "NG_033090.2:g.13822G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673884" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000335542.13:c.214C>A" ], "proteinEffect": { "hgvs": "ENSP00000335074.8:p.Leu72Met", "hgvsWellDefined": "ENSP00000335074.8:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS747507", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000335542.13:c.214C>A" }, "RefSeq": { "hgvs": "NM_016362.5:c.214C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000335074.8:p.Leu72Met" }, "RefSeq": { "hgvs": "NP_057446.1:p.Leu72Met" } } } }, { "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000287656.11:c.211C>A" ], "proteinEffect": { "hgvs": "ENSP00000287656.7:p.Leu71Met", "hgvsWellDefined": "ENSP00000287656.7:p.Leu71Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS253456" }, { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000335542.12:c.214C>A" ], "proteinEffect": { "hgvs": "ENSP00000335074.8:p.Leu72Met", "hgvsWellDefined": "ENSP00000335074.8:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS260147" }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "C", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000422159.5:c.214C>A" ], "proteinEffect": { "hgvs": "ENSP00000405464.1:p.Leu72Met", "hgvsWellDefined": "ENSP00000405464.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS287143" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "C", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000429122.1:c.214C>A" ], "proteinEffect": { "hgvs": "ENSP00000414819.1:p.Leu72Met", "hgvsWellDefined": "ENSP00000414819.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS290521" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000430179.5:c.211C>A" ], "proteinEffect": { "hgvs": "ENSP00000399922.1:p.Leu71Met", "hgvsWellDefined": "ENSP00000399922.1:p.Leu71Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS291020" }, { "coordinates": [ { "allele": "A", "end": 182, "referenceAllele": "C", "start": 181 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000437422.6:c.178C>A" ], "proteinEffect": { "hgvs": "ENSP00000416768.2:p.Leu60Met", "hgvsWellDefined": "ENSP00000416768.2:p.Leu60Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS294458" }, { "coordinates": [ { "allele": "A", "end": 76, "endIntronDirection": "-", "endIntronOffset": 2960, "referenceAllele": "C", "start": 76, "startIntronDirection": "-", "startIntronOffset": 2961 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000439975.6:c.73-2961C>A" ], "proteinEffect": { "hgvs": "ENSP00000403725.2:n.73-2961C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295670" }, { "coordinates": [ { "allele": "A", "end": 76, "endIntronDirection": "+", "endIntronOffset": 3069, "referenceAllele": "C", "start": 76, "startIntronDirection": "+", "startIntronOffset": 3068 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000446937.2:c.72+3069C>A" ], "proteinEffect": { "hgvs": "ENSP00000394923.2:n.72+3069C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS298974" }, { "coordinates": [ { "allele": "A", "end": 179, "referenceAllele": "C", "start": 178 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000449238.6:c.175C>A" ], "proteinEffect": { "hgvs": "ENSP00000388145.2:p.Leu59Met", "hgvsWellDefined": "ENSP00000388145.2:p.Leu59Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS300114" }, { "coordinates": [ { "allele": "A", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000457360.5:c.214C>A" ], "proteinEffect": { "hgvs": "ENSP00000391406.1:p.Leu72Met", "hgvsWellDefined": "ENSP00000391406.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS303916" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000475759.5:n.35C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316967" }, { "coordinates": [ { "allele": "A", "end": 35, "referenceAllele": "C", "start": 34 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000476283.1:n.35C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317376" }, { "coordinates": [ { "allele": "A", "end": 391, "referenceAllele": "C", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000481287.5:n.391C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321242" }, { "coordinates": [ { "allele": "A", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "ENST00000491589.5:n.305C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329159" }, { "@id": "http://reg.genome.network/allele/PA2825785795", "coordinates": [ { "allele": "A", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001134941.2:c.211C>A" ], "proteinEffect": { "hgvs": "NP_001128413.1:p.Leu71Met", "hgvsWellDefined": "NP_001128413.1:p.Leu71Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012318" }, { "@id": "http://reg.genome.network/allele/PA117242", "coordinates": [ { "allele": "A", "end": 212, "referenceAllele": "C", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001134944.1:c.178C>A" ], "proteinEffect": { "hgvs": "NP_001128416.1:p.Leu60Met", "hgvsWellDefined": "NP_001128416.1:p.Leu60Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012319" }, { "@id": "http://reg.genome.network/allele/PA2825785813", "coordinates": [ { "allele": "A", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001134945.1:c.175C>A" ], "proteinEffect": { "hgvs": "NP_001128417.1:p.Leu59Met", "hgvsWellDefined": "NP_001128417.1:p.Leu59Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS012320" }, { "coordinates": [ { "allele": "A", "end": 106, "endIntronDirection": "-", "endIntronOffset": 2960, "referenceAllele": "C", "start": 106, "startIntronDirection": "-", "startIntronOffset": 2961 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001134946.1:c.73-2961C>A" ], "proteinEffect": { "hgvs": "NP_001128418.1:n.73-2961C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS012321" }, { "@id": "http://reg.genome.network/allele/PA2826874328", "coordinates": [ { "allele": "A", "end": 836, "referenceAllele": "C", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001302821.1:c.214C>A" ], "proteinEffect": { "hgvs": "NP_001289750.1:p.Leu72Met", "hgvsWellDefined": "NP_001289750.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS025353" }, { "@id": "http://reg.genome.network/allele/PA2826874341", "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001302822.1:c.214C>A" ], "proteinEffect": { "hgvs": "NP_001289751.1:p.Leu72Met", "hgvsWellDefined": "NP_001289751.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS025354" }, { "@id": "http://reg.genome.network/allele/PA2826874354", "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "C", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001302823.1:c.211C>A" ], "proteinEffect": { "hgvs": "NP_001289752.1:p.Leu71Met", "hgvsWellDefined": "NP_001289752.1:p.Leu71Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS025355" }, { "@id": "http://reg.genome.network/allele/PA2826874367", "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001302824.1:c.214C>A" ], "proteinEffect": { "hgvs": "NP_001289753.1:p.Leu72Met", "hgvsWellDefined": "NP_001289753.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS025356" }, { "@id": "http://reg.genome.network/allele/PA2826874380", "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001302825.1:c.214C>A" ], "proteinEffect": { "hgvs": "NP_001289754.1:p.Leu72Met", "hgvsWellDefined": "NP_001289754.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS025357" }, { "@id": "http://reg.genome.network/allele/PA117243", "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_016362.4:c.214C>A" ], "proteinEffect": { "hgvs": "NP_057446.1:p.Leu72Met", "hgvsWellDefined": "NP_057446.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS034647" }, { "coordinates": [ { "allele": "T", "end": 383, "endIntronDirection": "+", "endIntronOffset": 1671, "referenceAllele": "G", "start": 383, "startIntronDirection": "+", "startIntronOffset": 1670 } ], "gene": "http://reg.genome.network/gene/GN033885", "geneNCBI_id": 100126793, "geneSymbol": "GHRLOS", "hgvs": [ "NR_004431.3:n.383+1671G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS046520" }, { "coordinates": [ { "allele": "T", "end": 466, "endIntronDirection": "+", "endIntronOffset": 1671, "referenceAllele": "G", "start": 466, "startIntronDirection": "+", "startIntronOffset": 1670 } ], "gene": "http://reg.genome.network/gene/GN033885", "geneNCBI_id": 100126793, "geneSymbol": "GHRLOS", "hgvs": [ "NR_024144.2:n.466+1671G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS046778" }, { "coordinates": [ { "allele": "T", "end": 555, "endIntronDirection": "+", "endIntronOffset": 1671, "referenceAllele": "G", "start": 555, "startIntronDirection": "+", "startIntronOffset": 1670 } ], "gene": "http://reg.genome.network/gene/GN033885", "geneNCBI_id": 100126793, "geneSymbol": "GHRLOS", "hgvs": [ "NR_024145.2:n.555+1671G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS046779" }, { "coordinates": [ { "allele": "T", "end": 566, "endIntronDirection": "+", "endIntronOffset": 1667, "referenceAllele": "G", "start": 566, "startIntronDirection": "+", "startIntronOffset": 1666 } ], "gene": "http://reg.genome.network/gene/GN033885", "geneNCBI_id": 100126793, "geneSymbol": "GHRLOS", "hgvs": [ "NR_073566.1:n.566+1667G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052686" }, { "coordinates": [ { "allele": "T", "end": 554, "endIntronDirection": "+", "endIntronOffset": 1671, "referenceAllele": "G", "start": 554, "startIntronDirection": "+", "startIntronOffset": 1670 } ], "gene": "http://reg.genome.network/gene/GN033885", "geneNCBI_id": 100126793, "geneSymbol": "GHRLOS", "hgvs": [ "NR_073567.1:n.554+1671G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052687" }, { "coordinates": [ { "allele": "T", "end": 409, "endIntronDirection": "+", "endIntronOffset": 1671, "referenceAllele": "G", "start": 409, "startIntronDirection": "+", "startIntronOffset": 1670 } ], "gene": "http://reg.genome.network/gene/GN033885", "geneNCBI_id": 100126793, "geneSymbol": "GHRLOS", "hgvs": [ "NR_073568.1:n.409+1671G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052688" }, { "coordinates": [ { "allele": "A", "end": 106, "endIntronDirection": "+", "endIntronOffset": 3069, "referenceAllele": "C", "start": 106, "startIntronDirection": "+", "startIntronOffset": 3068 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NR_126505.1:n.106+3069C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS056306" }, { "coordinates": [ { "allele": "A", "end": 2398, "referenceAllele": "C", "start": 2397 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "XM_017006612.2:c.214C>A" ], "proteinEffect": { "hgvs": "XP_016862101.1:p.Leu72Met", "hgvsWellDefined": "XP_016862101.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS561613" }, { "coordinates": [ { "allele": "A", "end": 2395, "referenceAllele": "C", "start": 2394 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "XM_017006613.2:c.211C>A" ], "proteinEffect": { "hgvs": "XP_016862102.1:p.Leu71Met", "hgvsWellDefined": "XP_016862102.1:p.Leu71Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS561614" }, { "coordinates": [ { "allele": "A", "end": 2149, "referenceAllele": "C", "start": 2148 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "XM_024453594.1:c.214C>A" ], "proteinEffect": { "hgvs": "XP_024309362.1:p.Leu72Met", "hgvsWellDefined": "XP_024309362.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS586970" }, { "@id": "http://reg.genome.network/allele/PA2825785795", "coordinates": [ { "allele": "A", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001134941.3:c.211C>A" ], "proteinEffect": { "hgvs": "NP_001128413.1:p.Leu71Met", "hgvsWellDefined": "NP_001128413.1:p.Leu71Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677259" }, { "@id": "http://reg.genome.network/allele/PA117242", "coordinates": [ { "allele": "A", "end": 212, "referenceAllele": "C", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001134944.2:c.178C>A" ], "proteinEffect": { "hgvs": "NP_001128416.1:p.Leu60Met", "hgvsWellDefined": "NP_001128416.1:p.Leu60Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677260" }, { "@id": "http://reg.genome.network/allele/PA2825785813", "coordinates": [ { "allele": "A", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001134945.2:c.175C>A" ], "proteinEffect": { "hgvs": "NP_001128417.1:p.Leu59Met", "hgvsWellDefined": "NP_001128417.1:p.Leu59Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS677261" }, { "coordinates": [ { "allele": "A", "end": 106, "endIntronDirection": "-", "endIntronOffset": 2960, "referenceAllele": "C", "start": 106, "startIntronDirection": "-", "startIntronOffset": 2961 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001134946.2:c.73-2961C>A" ], "proteinEffect": { "hgvs": "NP_001128418.1:n.73-2961C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS677262" }, { "@id": "http://reg.genome.network/allele/PA2826874328", "coordinates": [ { "allele": "A", "end": 836, "referenceAllele": "C", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001302821.2:c.214C>A" ], "proteinEffect": { "hgvs": "NP_001289750.1:p.Leu72Met", "hgvsWellDefined": "NP_001289750.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS683487" }, { "@id": "http://reg.genome.network/allele/PA2826874341", "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001302822.2:c.214C>A" ], "proteinEffect": { "hgvs": "NP_001289751.1:p.Leu72Met", "hgvsWellDefined": "NP_001289751.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS683488" }, { "@id": "http://reg.genome.network/allele/PA2826874354", "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "C", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001302823.2:c.211C>A" ], "proteinEffect": { "hgvs": "NP_001289752.1:p.Leu71Met", "hgvsWellDefined": "NP_001289752.1:p.Leu71Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS683489" }, { "@id": "http://reg.genome.network/allele/PA2826874367", "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001302824.2:c.214C>A" ], "proteinEffect": { "hgvs": "NP_001289753.1:p.Leu72Met", "hgvsWellDefined": "NP_001289753.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS683490" }, { "@id": "http://reg.genome.network/allele/PA2826874380", "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_001302825.2:c.214C>A" ], "proteinEffect": { "hgvs": "NP_001289754.1:p.Leu72Met", "hgvsWellDefined": "NP_001289754.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS683491" }, { "@id": "http://reg.genome.network/allele/PA117243", "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "C", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NM_016362.5:c.214C>A" ], "proteinEffect": { "hgvs": "NP_057446.1:p.Leu72Met", "hgvsWellDefined": "NP_057446.1:p.Leu72Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS697715", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000335542.13:c.214C>A" }, "RefSeq": { "hgvs": "NM_016362.5:c.214C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000335074.8:p.Leu72Met" }, "RefSeq": { "hgvs": "NP_057446.1:p.Leu72Met" } } } }, { "coordinates": [ { "allele": "A", "end": 106, "endIntronDirection": "+", "endIntronOffset": 3069, "referenceAllele": "C", "start": 106, "startIntronDirection": "+", "startIntronOffset": 3068 } ], "gene": "http://reg.genome.network/gene/GN018129", "geneNCBI_id": 51738, "geneSymbol": "GHRL", "hgvs": [ "NR_126505.2:n.106+3069C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703288" } ], "type": "nucleotide" }