Linked Data
ClinVar Variation Id:
1433960
ClinVar RCV Id:
RCV001984501
dbSNP Id:
rs758365405
ExAC:
17:37883987 G / A
gnomAD v2:
17-37883987-G-A
gnomAD v4:
17-39727734-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727734G>A , CM000679.2:g.39727734G>A | GRCh38 |
| NC_000017.10:g.37883987G>A , CM000679.1:g.37883987G>A | GRCh37 |
| NC_000017.9:g.35137513G>A | NCBI36 |
| NG_007503.1:g.44595G>A , LRG_724:g.44595G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3458G>A MANE Select | ENSP00000269571.4:p.Arg1153Gln | |
| ENST00000269571.9:c.3458G>A | ENSP00000269571.4:p.Arg1153Gln | |
| ENST00000406381.6:c.3368G>A | ENSP00000385185.2:p.Arg1123Gln | |
| ENST00000445658.6:c.2630G>A | ENSP00000404047.2:p.Arg877Gln | |
| ENST00000541774.5:c.3413G>A | ENSP00000446466.1:p.Arg1138Gln | |
| ENST00000578373.5:c.*3248G>A | ENSP00000463427.1:n.*3248G>A | |
| ENST00000584450.5:c.*37G>A | ENSP00000463714.1:n.*37G>A | |
| ENST00000584601.5:c.3368G>A | ENSP00000462438.1:p.Arg1123Gln | |
| NM_001005862.2:c.3368G>A , LRG_724t1:c.3368G>A | NP_001005862.1:p.Arg1123Gln | |
| NM_001289936.1:c.3413G>A , LRG_724t4:c.3413G>A | NP_001276865.1:p.Arg1138Gln | |
| NM_001289937.1:c.*37G>A | NP_001276866.1:n.*37G>A | |
| NM_004448.3:c.3458G>A , LRG_724t2:c.3458G>A | NP_004439.2:p.Arg1153Gln | |
| NR_110535.1:n.3782G>A | ||
| XM_024450641.1:c.3596G>A | XP_024306409.1:p.Arg1199Gln | |
| XM_024450642.1:c.3551G>A | XP_024306410.1:p.Arg1184Gln | |
| XM_024450643.1:c.3506G>A | XP_024306411.1:p.Arg1169Gln | |
| NM_001005862.3:c.3368G>A | NP_001005862.1:p.Arg1123Gln | |
| NM_001289936.2:c.3413G>A | NP_001276865.1:p.Arg1138Gln | |
| NM_001289937.2:c.*37G>A | NP_001276866.1:n.*37G>A | |
| NM_001382782.1:c.3368G>A | NP_001369711.1:p.Arg1123Gln | |
| NM_001382783.1:c.3368G>A | NP_001369712.1:p.Arg1123Gln | |
| NM_001382784.1:c.3575G>A | NP_001369713.1:p.Arg1192Gln | |
| NM_001382785.1:c.3560G>A | NP_001369714.1:p.Arg1187Gln | |
| NM_001382786.1:c.3539G>A | NP_001369715.1:p.Arg1180Gln | |
| NM_001382787.1:c.3533G>A | NP_001369716.1:p.Arg1178Gln | |
| NM_001382788.1:c.3488G>A | NP_001369717.1:p.Arg1163Gln | |
| NM_001382789.1:c.3479G>A | NP_001369718.1:p.Arg1160Gln | |
| NM_001382790.1:c.3455G>A | NP_001369719.1:p.Arg1152Gln | |
| NM_001382791.1:c.3449G>A | NP_001369720.1:p.Arg1150Gln | |
| NM_001382792.1:c.3422G>A | NP_001369721.1:p.Arg1141Gln | |
| NM_001382793.1:c.3416G>A | NP_001369722.1:p.Arg1139Gln | |
| NM_001382794.1:c.3416G>A | NP_001369723.1:p.Arg1139Gln | |
| NM_001382795.1:c.3410G>A | NP_001369724.1:p.Arg1137Gln | |
| NM_001382796.1:c.3371G>A | NP_001369725.1:p.Arg1124Gln | |
| NM_001382797.1:c.3359G>A | NP_001369726.1:p.Arg1120Gln | |
| NM_001382798.1:c.3302G>A | NP_001369727.1:p.Arg1101Gln | |
| NM_001382799.1:c.3278G>A | NP_001369728.1:p.Arg1093Gln | |
| NM_001382800.1:c.3272G>A | NP_001369729.1:p.Arg1091Gln | |
| NM_001382801.1:c.3254G>A | NP_001369730.1:p.Arg1085Gln | |
| NM_001382802.1:c.3200G>A | NP_001369731.1:p.Arg1067Gln | |
| NM_001382803.1:c.*37G>A | NP_001369732.1:n.*37G>A | |
| NM_001382804.1:c.2630G>A | NP_001369733.1:p.Arg877Gln | |
| NM_001382805.1:c.2507G>A | NP_001369734.1:p.Arg836Gln | |
| NM_001382806.1:c.2420G>A | NP_001369735.1:p.Arg807Gln | |
| NM_004448.4:c.3458G>A MANE Select | NP_004439.2:p.Arg1153Gln | |
| NR_110535.2:n.3696G>A |