Linked Data
ClinVar Variation Id:
2179817
ClinVar RCV Id:
RCV002615242
dbSNP Id:
rs776754071
ExAC:
17:37884070 G / A
gnomAD v2:
17-37884070-G-A
gnomAD v3:
17-39727817-G-A
gnomAD v4:
17-39727817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727817G>A , CM000679.2:g.39727817G>A | GRCh38 |
| NC_000017.10:g.37884070G>A , CM000679.1:g.37884070G>A | GRCh37 |
| NC_000017.9:g.35137596G>A | NCBI36 |
| NG_007503.1:g.44678G>A , LRG_724:g.44678G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3541G>A MANE Select | ENSP00000269571.4:p.Val1181Ile | |
| ENST00000269571.9:c.3541G>A | ENSP00000269571.4:p.Val1181Ile | |
| ENST00000406381.6:c.3451G>A | ENSP00000385185.2:p.Val1151Ile | |
| ENST00000445658.6:c.2713G>A | ENSP00000404047.2:p.Val905Ile | |
| ENST00000541774.5:c.3496G>A | ENSP00000446466.1:p.Val1166Ile | |
| ENST00000578373.5:c.*3331G>A | ENSP00000463427.1:n.*3331G>A | |
| ENST00000584450.5:c.*120G>A | ENSP00000463714.1:n.*120G>A | |
| ENST00000584601.5:c.3451G>A | ENSP00000462438.1:p.Val1151Ile | |
| NM_001005862.2:c.3451G>A , LRG_724t1:c.3451G>A | NP_001005862.1:p.Val1151Ile | |
| NM_001289936.1:c.3496G>A , LRG_724t4:c.3496G>A | NP_001276865.1:p.Val1166Ile | |
| NM_001289937.1:c.*120G>A | NP_001276866.1:n.*120G>A | |
| NM_004448.3:c.3541G>A , LRG_724t2:c.3541G>A | NP_004439.2:p.Val1181Ile | |
| NR_110535.1:n.3865G>A | ||
| XM_024450641.1:c.3679G>A | XP_024306409.1:p.Val1227Ile | |
| XM_024450642.1:c.3634G>A | XP_024306410.1:p.Val1212Ile | |
| XM_024450643.1:c.3589G>A | XP_024306411.1:p.Val1197Ile | |
| NM_001005862.3:c.3451G>A | NP_001005862.1:p.Val1151Ile | |
| NM_001289936.2:c.3496G>A | NP_001276865.1:p.Val1166Ile | |
| NM_001289937.2:c.*120G>A | NP_001276866.1:n.*120G>A | |
| NM_001382782.1:c.3451G>A | NP_001369711.1:p.Val1151Ile | |
| NM_001382783.1:c.3451G>A | NP_001369712.1:p.Val1151Ile | |
| NM_001382784.1:c.3658G>A | NP_001369713.1:p.Val1220Ile | |
| NM_001382785.1:c.3643G>A | NP_001369714.1:p.Val1215Ile | |
| NM_001382786.1:c.3622G>A | NP_001369715.1:p.Val1208Ile | |
| NM_001382787.1:c.3616G>A | NP_001369716.1:p.Val1206Ile | |
| NM_001382788.1:c.3571G>A | NP_001369717.1:p.Val1191Ile | |
| NM_001382789.1:c.3562G>A | NP_001369718.1:p.Val1188Ile | |
| NM_001382790.1:c.3538G>A | NP_001369719.1:p.Val1180Ile | |
| NM_001382791.1:c.3532G>A | NP_001369720.1:p.Val1178Ile | |
| NM_001382792.1:c.3505G>A | NP_001369721.1:p.Val1169Ile | |
| NM_001382793.1:c.3499G>A | NP_001369722.1:p.Val1167Ile | |
| NM_001382794.1:c.3499G>A | NP_001369723.1:p.Val1167Ile | |
| NM_001382795.1:c.3493G>A | NP_001369724.1:p.Val1165Ile | |
| NM_001382796.1:c.3454G>A | NP_001369725.1:p.Val1152Ile | |
| NM_001382797.1:c.3442G>A | NP_001369726.1:p.Val1148Ile | |
| NM_001382798.1:c.3385G>A | NP_001369727.1:p.Val1129Ile | |
| NM_001382799.1:c.3361G>A | NP_001369728.1:p.Val1121Ile | |
| NM_001382800.1:c.3355G>A | NP_001369729.1:p.Val1119Ile | |
| NM_001382801.1:c.3337G>A | NP_001369730.1:p.Val1113Ile | |
| NM_001382802.1:c.3283G>A | NP_001369731.1:p.Val1095Ile | |
| NM_001382803.1:c.*120G>A | NP_001369732.1:n.*120G>A | |
| NM_001382804.1:c.2713G>A | NP_001369733.1:p.Val905Ile | |
| NM_001382805.1:c.2590G>A | NP_001369734.1:p.Val864Ile | |
| NM_001382806.1:c.2503G>A | NP_001369735.1:p.Val835Ile | |
| NM_004448.4:c.3541G>A MANE Select | NP_004439.2:p.Val1181Ile | |
| NR_110535.2:n.3779G>A |