Linked Data
ClinVar Variation Id:
2172060
ClinVar RCV Id:
RCV003090457
dbSNP Id:
rs376450229
ExAC:
17:37883578 G / A
gnomAD v2:
17-37883578-G-A
gnomAD v3:
17-39727325-G-A
gnomAD v4:
17-39727325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727325G>A , CM000679.2:g.39727325G>A | GRCh38 |
| NC_000017.10:g.37883578G>A , CM000679.1:g.37883578G>A | GRCh37 |
| NC_000017.9:g.35137104G>A | NCBI36 |
| NG_007503.1:g.44186G>A , LRG_724:g.44186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3190G>A MANE Select | ENSP00000269571.4:p.Glu1064Lys | |
| ENST00000269571.9:c.3190G>A | ENSP00000269571.4:p.Glu1064Lys | |
| ENST00000406381.6:c.3100G>A | ENSP00000385185.2:p.Glu1034Lys | |
| ENST00000445658.6:c.2362G>A | ENSP00000404047.2:p.Glu788Lys | |
| ENST00000541774.5:c.3145G>A | ENSP00000446466.1:p.Glu1049Lys | |
| ENST00000578373.5:c.*2980G>A | ENSP00000463427.1:n.*2980G>A | |
| ENST00000584450.5:c.3159+322G>A | ENSP00000463714.1:n.3159+322G>A | |
| ENST00000584601.5:c.3100G>A | ENSP00000462438.1:p.Glu1034Lys | |
| NM_001005862.2:c.3100G>A , LRG_724t1:c.3100G>A | NP_001005862.1:p.Glu1034Lys | |
| NM_001289936.1:c.3145G>A , LRG_724t4:c.3145G>A | NP_001276865.1:p.Glu1049Lys | |
| NM_001289937.1:c.3159+322G>A | NP_001276866.1:n.3159+322G>A | |
| NM_004448.3:c.3190G>A , LRG_724t2:c.3190G>A | NP_004439.2:p.Glu1064Lys | |
| NR_110535.1:n.3514G>A | ||
| XM_024450641.1:c.3328G>A | XP_024306409.1:p.Glu1110Lys | |
| XM_024450642.1:c.3283G>A | XP_024306410.1:p.Glu1095Lys | |
| XM_024450643.1:c.3238G>A | XP_024306411.1:p.Glu1080Lys | |
| NM_001005862.3:c.3100G>A | NP_001005862.1:p.Glu1034Lys | |
| NM_001289936.2:c.3145G>A | NP_001276865.1:p.Glu1049Lys | |
| NM_001289937.2:c.3159+322G>A | NP_001276866.1:n.3159+322G>A | |
| NM_001382782.1:c.3100G>A | NP_001369711.1:p.Glu1034Lys | |
| NM_001382783.1:c.3100G>A | NP_001369712.1:p.Glu1034Lys | |
| NM_001382784.1:c.3307G>A | NP_001369713.1:p.Glu1103Lys | |
| NM_001382785.1:c.3292G>A | NP_001369714.1:p.Glu1098Lys | |
| NM_001382786.1:c.3271G>A | NP_001369715.1:p.Glu1091Lys | |
| NM_001382787.1:c.3265G>A | NP_001369716.1:p.Glu1089Lys | |
| NM_001382788.1:c.3220G>A | NP_001369717.1:p.Glu1074Lys | |
| NM_001382789.1:c.3211G>A | NP_001369718.1:p.Glu1071Lys | |
| NM_001382790.1:c.3187G>A | NP_001369719.1:p.Glu1063Lys | |
| NM_001382791.1:c.3181G>A | NP_001369720.1:p.Glu1061Lys | |
| NM_001382792.1:c.3154G>A | NP_001369721.1:p.Glu1052Lys | |
| NM_001382793.1:c.3148G>A | NP_001369722.1:p.Glu1050Lys | |
| NM_001382794.1:c.3148G>A | NP_001369723.1:p.Glu1050Lys | |
| NM_001382795.1:c.3142G>A | NP_001369724.1:p.Glu1048Lys | |
| NM_001382796.1:c.3103G>A | NP_001369725.1:p.Glu1035Lys | |
| NM_001382797.1:c.3091G>A | NP_001369726.1:p.Glu1031Lys | |
| NM_001382798.1:c.3034G>A | NP_001369727.1:p.Glu1012Lys | |
| NM_001382799.1:c.3010G>A | NP_001369728.1:p.Glu1004Lys | |
| NM_001382800.1:c.3004G>A | NP_001369729.1:p.Glu1002Lys | |
| NM_001382801.1:c.2986G>A | NP_001369730.1:p.Glu996Lys | |
| NM_001382802.1:c.2932G>A | NP_001369731.1:p.Glu978Lys | |
| NM_001382803.1:c.3117+322G>A | NP_001369732.1:n.3117+322G>A | |
| NM_001382804.1:c.2362G>A | NP_001369733.1:p.Glu788Lys | |
| NM_001382805.1:c.2239G>A | NP_001369734.1:p.Glu747Lys | |
| NM_001382806.1:c.2152G>A | NP_001369735.1:p.Glu718Lys | |
| NM_004448.4:c.3190G>A MANE Select | NP_004439.2:p.Glu1064Lys | |
| NR_110535.2:n.3428G>A |