Linked Data
dbSNP Id:
rs1391139604
gnomAD v2:
17-37881055-A-G
gnomAD v4:
17-39724802-A-G
COSMIC:
COSM85896
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724802A>G , CM000679.2:g.39724802A>G | GRCh38 |
| NC_000017.10:g.37881055A>G , CM000679.1:g.37881055A>G | GRCh37 |
| NC_000017.9:g.35134581A>G | NCBI36 |
| NG_007503.1:g.41663A>G , LRG_724:g.41663A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2384A>G MANE Select | ENSP00000269571.4:p.Gln795Arg | |
| ENST00000269571.9:c.2384A>G | ENSP00000269571.4:p.Gln795Arg | |
| ENST00000406381.6:c.2294A>G | ENSP00000385185.2:p.Gln765Arg | |
| ENST00000445658.6:c.1556A>G | ENSP00000404047.2:p.Gln519Arg | |
| ENST00000541774.5:c.2339A>G | ENSP00000446466.1:p.Gln780Arg | |
| ENST00000578373.5:c.*2174A>G | ENSP00000463427.1:n.*2174A>G | |
| ENST00000580074.1:c.490A>G | ||
| ENST00000583038.5:n.3518A>G | ||
| ENST00000584450.5:c.2384A>G | ENSP00000463714.1:p.Gln795Arg | |
| ENST00000584601.5:c.2294A>G | ENSP00000462438.1:p.Gln765Arg | |
| NM_001005862.2:c.2294A>G , LRG_724t1:c.2294A>G | NP_001005862.1:p.Gln765Arg | |
| NM_001289936.1:c.2339A>G , LRG_724t4:c.2339A>G | NP_001276865.1:p.Gln780Arg | |
| NM_001289937.1:c.2384A>G | NP_001276866.1:p.Gln795Arg | |
| NM_004448.3:c.2384A>G , LRG_724t2:c.2384A>G | NP_004439.2:p.Gln795Arg | |
| NR_110535.1:n.2708A>G | ||
| XM_024450641.1:c.2522A>G | XP_024306409.1:p.Gln841Arg | |
| XM_024450642.1:c.2477A>G | XP_024306410.1:p.Gln826Arg | |
| XM_024450643.1:c.2432A>G | XP_024306411.1:p.Gln811Arg | |
| NM_001005862.3:c.2294A>G | NP_001005862.1:p.Gln765Arg | |
| NM_001289936.2:c.2339A>G | NP_001276865.1:p.Gln780Arg | |
| NM_001289937.2:c.2384A>G | NP_001276866.1:p.Gln795Arg | |
| NM_001382782.1:c.2294A>G | NP_001369711.1:p.Gln765Arg | |
| NM_001382783.1:c.2294A>G | NP_001369712.1:p.Gln765Arg | |
| NM_001382784.1:c.2501A>G | NP_001369713.1:p.Gln834Arg | |
| NM_001382785.1:c.2486A>G | NP_001369714.1:p.Gln829Arg | |
| NM_001382786.1:c.2465A>G | NP_001369715.1:p.Gln822Arg | |
| NM_001382787.1:c.2459A>G | NP_001369716.1:p.Gln820Arg | |
| NM_001382788.1:c.2414A>G | NP_001369717.1:p.Gln805Arg | |
| NM_001382789.1:c.2405A>G | NP_001369718.1:p.Gln802Arg | |
| NM_001382790.1:c.2381A>G | NP_001369719.1:p.Gln794Arg | |
| NM_001382791.1:c.2375A>G | NP_001369720.1:p.Gln792Arg | |
| NM_001382792.1:c.2348A>G | NP_001369721.1:p.Gln783Arg | |
| NM_001382793.1:c.2342A>G | NP_001369722.1:p.Gln781Arg | |
| NM_001382794.1:c.2342A>G | NP_001369723.1:p.Gln781Arg | |
| NM_001382795.1:c.2336A>G | NP_001369724.1:p.Gln779Arg | |
| NM_001382796.1:c.2384A>G | NP_001369725.1:p.Gln795Arg | |
| NM_001382797.1:c.2285A>G | NP_001369726.1:p.Gln762Arg | |
| NM_001382798.1:c.2384A>G | NP_001369727.1:p.Gln795Arg | |
| NM_001382799.1:c.2204A>G | NP_001369728.1:p.Gln735Arg | |
| NM_001382800.1:c.2308-247A>G | NP_001369729.1:n.2308-247A>G | |
| NM_001382801.1:c.2336A>G | NP_001369730.1:p.Gln779Arg | |
| NM_001382802.1:c.2126A>G | NP_001369731.1:p.Gln709Arg | |
| NM_001382803.1:c.2342A>G | NP_001369732.1:p.Gln781Arg | |
| NM_001382804.1:c.1556A>G | NP_001369733.1:p.Gln519Arg | |
| NM_001382805.1:c.2208+1142A>G | NP_001369734.1:n.2208+1142A>G | |
| NM_001382806.1:c.1346A>G | NP_001369735.1:p.Gln449Arg | |
| NM_004448.4:c.2384A>G MANE Select | NP_004439.2:p.Gln795Arg | |
| NR_110535.2:n.2622A>G |