Linked Data
ClinVar Variation Id:
163410
ClinVar RCV Id:
RCV000150654
dbSNP Id:
rs144434331
COSMIC:
COSM18609
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724745G>T , CM000679.2:g.39724745G>T | GRCh38 |
| NC_000017.10:g.37880998G>T , CM000679.1:g.37880998G>T | GRCh37 |
| NC_000017.9:g.35134524G>T | NCBI36 |
| NG_007503.1:g.41606G>T , LRG_724:g.41606G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2327G>T MANE Select | ENSP00000269571.4:p.Gly776Val | |
| ENST00000269571.9:c.2327G>T | ENSP00000269571.4:p.Gly776Val | |
| ENST00000406381.6:c.2237G>T | ENSP00000385185.2:p.Gly746Val | |
| ENST00000445658.6:c.1499G>T | ENSP00000404047.2:p.Gly500Val | |
| ENST00000541774.5:c.2282G>T | ENSP00000446466.1:p.Gly761Val | |
| ENST00000578373.5:c.*2117G>T | ENSP00000463427.1:n.*2117G>T | |
| ENST00000580074.1:c.433G>T | ||
| ENST00000583038.5:n.3461G>T | ||
| ENST00000584450.5:c.2327G>T | ENSP00000463714.1:p.Gly776Val | |
| ENST00000584601.5:c.2237G>T | ENSP00000462438.1:p.Gly746Val | |
| NM_001005862.2:c.2237G>T , LRG_724t1:c.2237G>T | NP_001005862.1:p.Gly746Val | |
| NM_001289936.1:c.2282G>T , LRG_724t4:c.2282G>T | NP_001276865.1:p.Gly761Val | |
| NM_001289937.1:c.2327G>T | NP_001276866.1:p.Gly776Val | |
| NM_004448.3:c.2327G>T , LRG_724t2:c.2327G>T | NP_004439.2:p.Gly776Val | |
| NR_110535.1:n.2651G>T | ||
| XM_024450641.1:c.2465G>T | XP_024306409.1:p.Gly822Val | |
| XM_024450642.1:c.2420G>T | XP_024306410.1:p.Gly807Val | |
| XM_024450643.1:c.2375G>T | XP_024306411.1:p.Gly792Val | |
| NM_001005862.3:c.2237G>T | NP_001005862.1:p.Gly746Val | |
| NM_001289936.2:c.2282G>T | NP_001276865.1:p.Gly761Val | |
| NM_001289937.2:c.2327G>T | NP_001276866.1:p.Gly776Val | |
| NM_001382782.1:c.2237G>T | NP_001369711.1:p.Gly746Val | |
| NM_001382783.1:c.2237G>T | NP_001369712.1:p.Gly746Val | |
| NM_001382784.1:c.2444G>T | NP_001369713.1:p.Gly815Val | |
| NM_001382785.1:c.2429G>T | NP_001369714.1:p.Gly810Val | |
| NM_001382786.1:c.2408G>T | NP_001369715.1:p.Gly803Val | |
| NM_001382787.1:c.2402G>T | NP_001369716.1:p.Gly801Val | |
| NM_001382788.1:c.2357G>T | NP_001369717.1:p.Gly786Val | |
| NM_001382789.1:c.2348G>T | NP_001369718.1:p.Gly783Val | |
| NM_001382790.1:c.2324G>T | NP_001369719.1:p.Gly775Val | |
| NM_001382791.1:c.2318G>T | NP_001369720.1:p.Gly773Val | |
| NM_001382792.1:c.2291G>T | NP_001369721.1:p.Gly764Val | |
| NM_001382793.1:c.2285G>T | NP_001369722.1:p.Gly762Val | |
| NM_001382794.1:c.2285G>T | NP_001369723.1:p.Gly762Val | |
| NM_001382795.1:c.2279G>T | NP_001369724.1:p.Gly760Val | |
| NM_001382796.1:c.2327G>T | NP_001369725.1:p.Gly776Val | |
| NM_001382797.1:c.2228G>T | NP_001369726.1:p.Gly743Val | |
| NM_001382798.1:c.2327G>T | NP_001369727.1:p.Gly776Val | |
| NM_001382799.1:c.2147G>T | NP_001369728.1:p.Gly716Val | |
| NM_001382800.1:c.2308-304G>T | NP_001369729.1:n.2308-304G>T | |
| NM_001382801.1:c.2279G>T | NP_001369730.1:p.Gly760Val | |
| NM_001382802.1:c.2069G>T | NP_001369731.1:p.Gly690Val | |
| NM_001382803.1:c.2285G>T | NP_001369732.1:p.Gly762Val | |
| NM_001382804.1:c.1499G>T | NP_001369733.1:p.Gly500Val | |
| NM_001382805.1:c.2208+1085G>T | NP_001369734.1:n.2208+1085G>T | |
| NM_001382806.1:c.1289G>T | NP_001369735.1:p.Gly430Val | |
| NM_004448.4:c.2327G>T MANE Select | NP_004439.2:p.Gly776Val | |
| NR_110535.2:n.2565G>T |