Linked Data
ClinVar Variation Id:
842158
ClinVar RCV Id:
RCV001044532
dbSNP Id:
rs767717383
ExAC:
17:37883966 G / A
gnomAD v2:
17-37883966-G-A
gnomAD v4:
17-39727713-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727713G>A , CM000679.2:g.39727713G>A | GRCh38 |
| NC_000017.10:g.37883966G>A , CM000679.1:g.37883966G>A | GRCh37 |
| NC_000017.9:g.35137492G>A | NCBI36 |
| NG_007503.1:g.44574G>A , LRG_724:g.44574G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3437G>A MANE Select | ENSP00000269571.4:p.Arg1146Gln | |
| ENST00000269571.9:c.3437G>A | ENSP00000269571.4:p.Arg1146Gln | |
| ENST00000406381.6:c.3347G>A | ENSP00000385185.2:p.Arg1116Gln | |
| ENST00000445658.6:c.2609G>A | ENSP00000404047.2:p.Arg870Gln | |
| ENST00000541774.5:c.3392G>A | ENSP00000446466.1:p.Arg1131Gln | |
| ENST00000578373.5:c.*3227G>A | ENSP00000463427.1:n.*3227G>A | |
| ENST00000584450.5:c.*16G>A | ENSP00000463714.1:n.*16G>A | |
| ENST00000584601.5:c.3347G>A | ENSP00000462438.1:p.Arg1116Gln | |
| NM_001005862.2:c.3347G>A , LRG_724t1:c.3347G>A | NP_001005862.1:p.Arg1116Gln | |
| NM_001289936.1:c.3392G>A , LRG_724t4:c.3392G>A | NP_001276865.1:p.Arg1131Gln | |
| NM_001289937.1:c.*16G>A | NP_001276866.1:n.*16G>A | |
| NM_004448.3:c.3437G>A , LRG_724t2:c.3437G>A | NP_004439.2:p.Arg1146Gln | |
| NR_110535.1:n.3761G>A | ||
| XM_024450641.1:c.3575G>A | XP_024306409.1:p.Arg1192Gln | |
| XM_024450642.1:c.3530G>A | XP_024306410.1:p.Arg1177Gln | |
| XM_024450643.1:c.3485G>A | XP_024306411.1:p.Arg1162Gln | |
| NM_001005862.3:c.3347G>A | NP_001005862.1:p.Arg1116Gln | |
| NM_001289936.2:c.3392G>A | NP_001276865.1:p.Arg1131Gln | |
| NM_001289937.2:c.*16G>A | NP_001276866.1:n.*16G>A | |
| NM_001382782.1:c.3347G>A | NP_001369711.1:p.Arg1116Gln | |
| NM_001382783.1:c.3347G>A | NP_001369712.1:p.Arg1116Gln | |
| NM_001382784.1:c.3554G>A | NP_001369713.1:p.Arg1185Gln | |
| NM_001382785.1:c.3539G>A | NP_001369714.1:p.Arg1180Gln | |
| NM_001382786.1:c.3518G>A | NP_001369715.1:p.Arg1173Gln | |
| NM_001382787.1:c.3512G>A | NP_001369716.1:p.Arg1171Gln | |
| NM_001382788.1:c.3467G>A | NP_001369717.1:p.Arg1156Gln | |
| NM_001382789.1:c.3458G>A | NP_001369718.1:p.Arg1153Gln | |
| NM_001382790.1:c.3434G>A | NP_001369719.1:p.Arg1145Gln | |
| NM_001382791.1:c.3428G>A | NP_001369720.1:p.Arg1143Gln | |
| NM_001382792.1:c.3401G>A | NP_001369721.1:p.Arg1134Gln | |
| NM_001382793.1:c.3395G>A | NP_001369722.1:p.Arg1132Gln | |
| NM_001382794.1:c.3395G>A | NP_001369723.1:p.Arg1132Gln | |
| NM_001382795.1:c.3389G>A | NP_001369724.1:p.Arg1130Gln | |
| NM_001382796.1:c.3350G>A | NP_001369725.1:p.Arg1117Gln | |
| NM_001382797.1:c.3338G>A | NP_001369726.1:p.Arg1113Gln | |
| NM_001382798.1:c.3281G>A | NP_001369727.1:p.Arg1094Gln | |
| NM_001382799.1:c.3257G>A | NP_001369728.1:p.Arg1086Gln | |
| NM_001382800.1:c.3251G>A | NP_001369729.1:p.Arg1084Gln | |
| NM_001382801.1:c.3233G>A | NP_001369730.1:p.Arg1078Gln | |
| NM_001382802.1:c.3179G>A | NP_001369731.1:p.Arg1060Gln | |
| NM_001382803.1:c.*16G>A | NP_001369732.1:n.*16G>A | |
| NM_001382804.1:c.2609G>A | NP_001369733.1:p.Arg870Gln | |
| NM_001382805.1:c.2486G>A | NP_001369734.1:p.Arg829Gln | |
| NM_001382806.1:c.2399G>A | NP_001369735.1:p.Arg800Gln | |
| NM_004448.4:c.3437G>A MANE Select | NP_004439.2:p.Arg1146Gln | |
| NR_110535.2:n.3675G>A |