Linked Data
ClinVar Variation Id:
1428040
ClinVar RCV Id:
RCV001936101
dbSNP Id:
rs769940977
ExAC:
17:37884217 C / T
gnomAD v2:
17-37884217-C-T
gnomAD v3:
17-39727964-C-T
gnomAD v4:
17-39727964-C-T
MyVariant Identifiers:
chr17:g.37884217C>T (hg19)
chr17:g.37884217_37884218delinsTG (hg19)
chr17:g.39727964C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727964C>T , CM000679.2:g.39727964C>T | GRCh38 |
| NC_000017.10:g.37884217C>T , CM000679.1:g.37884217C>T | GRCh37 |
| NC_000017.9:g.35137743C>T | NCBI36 |
| NG_007503.1:g.44825C>T , LRG_724:g.44825C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3688C>T MANE Select | ENSP00000269571.4:p.Arg1230Trp | |
| ENST00000269571.9:c.3688C>T | ENSP00000269571.4:p.Arg1230Trp | |
| ENST00000406381.6:c.3598C>T | ENSP00000385185.2:p.Arg1200Trp | |
| ENST00000445658.6:c.2860C>T | ENSP00000404047.2:p.Arg954Trp | |
| ENST00000541774.5:c.3643C>T | ENSP00000446466.1:p.Arg1215Trp | |
| ENST00000578373.5:c.*3478C>T | ENSP00000463427.1:n.*3478C>T | |
| ENST00000584450.5:c.*267C>T | ENSP00000463714.1:n.*267C>T | |
| ENST00000584601.5:c.3598C>T | ENSP00000462438.1:p.Arg1200Trp | |
| NM_001005862.2:c.3598C>T , LRG_724t1:c.3598C>T | NP_001005862.1:p.Arg1200Trp | |
| NM_001289936.1:c.3643C>T , LRG_724t4:c.3643C>T | NP_001276865.1:p.Arg1215Trp | |
| NM_001289937.1:c.*267C>T | NP_001276866.1:n.*267C>T | |
| NM_004448.3:c.3688C>T , LRG_724t2:c.3688C>T | NP_004439.2:p.Arg1230Trp | |
| NR_110535.1:n.4012C>T | ||
| XM_024450641.1:c.3826C>T | XP_024306409.1:p.Arg1276Trp | |
| XM_024450642.1:c.3781C>T | XP_024306410.1:p.Arg1261Trp | |
| XM_024450643.1:c.3736C>T | XP_024306411.1:p.Arg1246Trp | |
| NM_001005862.3:c.3598C>T | NP_001005862.1:p.Arg1200Trp | |
| NM_001289936.2:c.3643C>T | NP_001276865.1:p.Arg1215Trp | |
| NM_001289937.2:c.*267C>T | NP_001276866.1:n.*267C>T | |
| NM_001382782.1:c.3598C>T | NP_001369711.1:p.Arg1200Trp | |
| NM_001382783.1:c.3598C>T | NP_001369712.1:p.Arg1200Trp | |
| NM_001382784.1:c.3805C>T | NP_001369713.1:p.Arg1269Trp | |
| NM_001382785.1:c.3790C>T | NP_001369714.1:p.Arg1264Trp | |
| NM_001382786.1:c.3769C>T | NP_001369715.1:p.Arg1257Trp | |
| NM_001382787.1:c.3763C>T | NP_001369716.1:p.Arg1255Trp | |
| NM_001382788.1:c.3718C>T | NP_001369717.1:p.Arg1240Trp | |
| NM_001382789.1:c.3709C>T | NP_001369718.1:p.Arg1237Trp | |
| NM_001382790.1:c.3685C>T | NP_001369719.1:p.Arg1229Trp | |
| NM_001382791.1:c.3679C>T | NP_001369720.1:p.Arg1227Trp | |
| NM_001382792.1:c.3652C>T | NP_001369721.1:p.Arg1218Trp | |
| NM_001382793.1:c.3646C>T | NP_001369722.1:p.Arg1216Trp | |
| NM_001382794.1:c.3646C>T | NP_001369723.1:p.Arg1216Trp | |
| NM_001382795.1:c.3640C>T | NP_001369724.1:p.Arg1214Trp | |
| NM_001382796.1:c.3601C>T | NP_001369725.1:p.Arg1201Trp | |
| NM_001382797.1:c.3589C>T | NP_001369726.1:p.Arg1197Trp | |
| NM_001382798.1:c.3532C>T | NP_001369727.1:p.Arg1178Trp | |
| NM_001382799.1:c.3508C>T | NP_001369728.1:p.Arg1170Trp | |
| NM_001382800.1:c.3502C>T | NP_001369729.1:p.Arg1168Trp | |
| NM_001382801.1:c.3484C>T | NP_001369730.1:p.Arg1162Trp | |
| NM_001382802.1:c.3430C>T | NP_001369731.1:p.Arg1144Trp | |
| NM_001382803.1:c.*267C>T | NP_001369732.1:n.*267C>T | |
| NM_001382804.1:c.2860C>T | NP_001369733.1:p.Arg954Trp | |
| NM_001382805.1:c.2737C>T | NP_001369734.1:p.Arg913Trp | |
| NM_001382806.1:c.2650C>T | NP_001369735.1:p.Arg884Trp | |
| NM_004448.4:c.3688C>T MANE Select | NP_004439.2:p.Arg1230Trp | |
| NR_110535.2:n.3926C>T |