Revel Score:
ENST00000406381
0.883
ENST00000541774
0.883
ENST00000445658
0.883
ENST00000269571 (MANE Select)
0.883
ENST00000540147
0.883
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39725721G>C , CM000679.2:g.39725721G>C | GRCh38 |
| NC_000017.10:g.37881974G>C , CM000679.1:g.37881974G>C | GRCh37 |
| NC_000017.9:g.35135500G>C | NCBI36 |
| NG_007503.1:g.42582G>C , LRG_724:g.42582G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2740G>C MANE Select | ENSP00000269571.4:p.Glu914Gln | |
| ENST00000269571.9:c.2740G>C | ENSP00000269571.4:p.Glu914Gln | |
| ENST00000406381.6:c.2650G>C | ENSP00000385185.2:p.Glu884Gln | |
| ENST00000445658.6:c.1912G>C | ENSP00000404047.2:p.Glu638Gln | |
| ENST00000541774.5:c.2695G>C | ENSP00000446466.1:p.Glu899Gln | |
| ENST00000578373.5:c.*2530G>C | ENSP00000463427.1:n.*2530G>C | |
| ENST00000583038.5:n.4300G>C | ||
| ENST00000584450.5:c.2740G>C | ENSP00000463714.1:p.Glu914Gln | |
| ENST00000584601.5:c.2650G>C | ENSP00000462438.1:p.Glu884Gln | |
| NM_001005862.2:c.2650G>C , LRG_724t1:c.2650G>C | NP_001005862.1:p.Glu884Gln | |
| NM_001289936.1:c.2695G>C , LRG_724t4:c.2695G>C | NP_001276865.1:p.Glu899Gln | |
| NM_001289937.1:c.2740G>C | NP_001276866.1:p.Glu914Gln | |
| NM_004448.3:c.2740G>C , LRG_724t2:c.2740G>C | NP_004439.2:p.Glu914Gln | |
| NR_110535.1:n.3064G>C | ||
| XM_024450641.1:c.2878G>C | XP_024306409.1:p.Glu960Gln | |
| XM_024450642.1:c.2833G>C | XP_024306410.1:p.Glu945Gln | |
| XM_024450643.1:c.2788G>C | XP_024306411.1:p.Glu930Gln | |
| NM_001005862.3:c.2650G>C | NP_001005862.1:p.Glu884Gln | |
| NM_001289936.2:c.2695G>C | NP_001276865.1:p.Glu899Gln | |
| NM_001289937.2:c.2740G>C | NP_001276866.1:p.Glu914Gln | |
| NM_001382782.1:c.2650G>C | NP_001369711.1:p.Glu884Gln | |
| NM_001382783.1:c.2650G>C | NP_001369712.1:p.Glu884Gln | |
| NM_001382784.1:c.2857G>C | NP_001369713.1:p.Glu953Gln | |
| NM_001382785.1:c.2842G>C | NP_001369714.1:p.Glu948Gln | |
| NM_001382786.1:c.2821G>C | NP_001369715.1:p.Glu941Gln | |
| NM_001382787.1:c.2815G>C | NP_001369716.1:p.Glu939Gln | |
| NM_001382788.1:c.2770G>C | NP_001369717.1:p.Glu924Gln | |
| NM_001382789.1:c.2761G>C | NP_001369718.1:p.Glu921Gln | |
| NM_001382790.1:c.2737G>C | NP_001369719.1:p.Glu913Gln | |
| NM_001382791.1:c.2731G>C | NP_001369720.1:p.Glu911Gln | |
| NM_001382792.1:c.2704G>C | NP_001369721.1:p.Glu902Gln | |
| NM_001382793.1:c.2698G>C | NP_001369722.1:p.Glu900Gln | |
| NM_001382794.1:c.2698G>C | NP_001369723.1:p.Glu900Gln | |
| NM_001382795.1:c.2692G>C | NP_001369724.1:p.Glu898Gln | |
| NM_001382796.1:c.2740G>C | NP_001369725.1:p.Glu914Gln | |
| NM_001382797.1:c.2641G>C | NP_001369726.1:p.Glu881Gln | |
| NM_001382798.1:c.2584G>C | NP_001369727.1:p.Glu862Gln | |
| NM_001382799.1:c.2560G>C | NP_001369728.1:p.Glu854Gln | |
| NM_001382800.1:c.2554G>C | NP_001369729.1:p.Glu852Gln | |
| NM_001382801.1:c.2536G>C | NP_001369730.1:p.Glu846Gln | |
| NM_001382802.1:c.2482G>C | NP_001369731.1:p.Glu828Gln | |
| NM_001382803.1:c.2698G>C | NP_001369732.1:p.Glu900Gln | |
| NM_001382804.1:c.1912G>C | NP_001369733.1:p.Glu638Gln | |
| NM_001382805.1:c.2209-1574G>C | NP_001369734.1:n.2209-1574G>C | |
| NM_001382806.1:c.1702G>C | NP_001369735.1:p.Glu568Gln | |
| NM_004448.4:c.2740G>C MANE Select | NP_004439.2:p.Glu914Gln | |
| NR_110535.2:n.2978G>C |