Linked Data
dbSNP Id:
rs771588633
ExAC:
17:37883666 G / A
gnomAD v2:
17-37883666-G-A
gnomAD v4:
17-39727413-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727413G>A , CM000679.2:g.39727413G>A | GRCh38 |
| NC_000017.10:g.37883666G>A , CM000679.1:g.37883666G>A | GRCh37 |
| NC_000017.9:g.35137192G>A | NCBI36 |
| NG_007503.1:g.44274G>A , LRG_724:g.44274G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3278G>A MANE Select | ENSP00000269571.4:p.Gly1093Glu | |
| ENST00000269571.9:c.3278G>A | ENSP00000269571.4:p.Gly1093Glu | |
| ENST00000406381.6:c.3188G>A | ENSP00000385185.2:p.Gly1063Glu | |
| ENST00000445658.6:c.2450G>A | ENSP00000404047.2:p.Gly817Glu | |
| ENST00000541774.5:c.3233G>A | ENSP00000446466.1:p.Gly1078Glu | |
| ENST00000578373.5:c.*3068G>A | ENSP00000463427.1:n.*3068G>A | |
| ENST00000584450.5:c.3160-276G>A | ENSP00000463714.1:n.3160-276G>A | |
| ENST00000584601.5:c.3188G>A | ENSP00000462438.1:p.Gly1063Glu | |
| NM_001005862.2:c.3188G>A , LRG_724t1:c.3188G>A | NP_001005862.1:p.Gly1063Glu | |
| NM_001289936.1:c.3233G>A , LRG_724t4:c.3233G>A | NP_001276865.1:p.Gly1078Glu | |
| NM_001289937.1:c.3160-276G>A | NP_001276866.1:n.3160-276G>A | |
| NM_004448.3:c.3278G>A , LRG_724t2:c.3278G>A | NP_004439.2:p.Gly1093Glu | |
| NR_110535.1:n.3602G>A | ||
| XM_024450641.1:c.3416G>A | XP_024306409.1:p.Gly1139Glu | |
| XM_024450642.1:c.3371G>A | XP_024306410.1:p.Gly1124Glu | |
| XM_024450643.1:c.3326G>A | XP_024306411.1:p.Gly1109Glu | |
| NM_001005862.3:c.3188G>A | NP_001005862.1:p.Gly1063Glu | |
| NM_001289936.2:c.3233G>A | NP_001276865.1:p.Gly1078Glu | |
| NM_001289937.2:c.3160-276G>A | NP_001276866.1:n.3160-276G>A | |
| NM_001382782.1:c.3188G>A | NP_001369711.1:p.Gly1063Glu | |
| NM_001382783.1:c.3188G>A | NP_001369712.1:p.Gly1063Glu | |
| NM_001382784.1:c.3395G>A | NP_001369713.1:p.Gly1132Glu | |
| NM_001382785.1:c.3380G>A | NP_001369714.1:p.Gly1127Glu | |
| NM_001382786.1:c.3359G>A | NP_001369715.1:p.Gly1120Glu | |
| NM_001382787.1:c.3353G>A | NP_001369716.1:p.Gly1118Glu | |
| NM_001382788.1:c.3308G>A | NP_001369717.1:p.Gly1103Glu | |
| NM_001382789.1:c.3299G>A | NP_001369718.1:p.Gly1100Glu | |
| NM_001382790.1:c.3275G>A | NP_001369719.1:p.Gly1092Glu | |
| NM_001382791.1:c.3269G>A | NP_001369720.1:p.Gly1090Glu | |
| NM_001382792.1:c.3242G>A | NP_001369721.1:p.Gly1081Glu | |
| NM_001382793.1:c.3236G>A | NP_001369722.1:p.Gly1079Glu | |
| NM_001382794.1:c.3236G>A | NP_001369723.1:p.Gly1079Glu | |
| NM_001382795.1:c.3230G>A | NP_001369724.1:p.Gly1077Glu | |
| NM_001382796.1:c.3191G>A | NP_001369725.1:p.Gly1064Glu | |
| NM_001382797.1:c.3179G>A | NP_001369726.1:p.Gly1060Glu | |
| NM_001382798.1:c.3122G>A | NP_001369727.1:p.Gly1041Glu | |
| NM_001382799.1:c.3098G>A | NP_001369728.1:p.Gly1033Glu | |
| NM_001382800.1:c.3092G>A | NP_001369729.1:p.Gly1031Glu | |
| NM_001382801.1:c.3074G>A | NP_001369730.1:p.Gly1025Glu | |
| NM_001382802.1:c.3020G>A | NP_001369731.1:p.Gly1007Glu | |
| NM_001382803.1:c.3118-276G>A | NP_001369732.1:n.3118-276G>A | |
| NM_001382804.1:c.2450G>A | NP_001369733.1:p.Gly817Glu | |
| NM_001382805.1:c.2327G>A | NP_001369734.1:p.Gly776Glu | |
| NM_001382806.1:c.2240G>A | NP_001369735.1:p.Gly747Glu | |
| NM_004448.4:c.3278G>A MANE Select | NP_004439.2:p.Gly1093Glu | |
| NR_110535.2:n.3516G>A |