COSMIC:
COSM1129384
dbSNP:
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201726854G>T , CM000664.2:g.201726854G>T | GRCh38 |
| NC_000002.11:g.202591577G>T , CM000664.1:g.202591577G>T | GRCh37 |
| NC_000002.10:g.202299822G>T | NCBI36 |
| NG_008775.1:g.59319C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.2992C>A MANE Select | ENSP00000264276.6:p.Arg998= | |
| ENST00000439495.6:c.670C>A | ENSP00000403832.2:p.Arg224= | |
| ENST00000482891.6:n.3760C>A | ||
| ENST00000494017.6:n.724C>A | ||
| ENST00000679409.1:c.670C>A | ENSP00000506531.1:p.Arg224= | |
| ENST00000679416.1:n.4496C>A | ||
| ENST00000679435.1:c.2992C>A | ENSP00000505218.1:p.Arg998= | |
| ENST00000679516.1:c.2992C>A | ENSP00000505187.1:p.Arg998= | |
| ENST00000679618.1:c.*80C>A | ENSP00000506274.1:n.*80C>A | |
| ENST00000679630.1:n.4841C>A | ||
| ENST00000679686.1:n.3106C>A | ||
| ENST00000679701.1:n.4841C>A | ||
| ENST00000679916.1:c.2992C>A | ENSP00000506172.1:p.Arg998= | |
| ENST00000680000.1:c.2992C>A | ENSP00000506173.1:p.Arg998= | |
| ENST00000680135.1:c.*956C>A | ENSP00000506211.1:n.*956C>A | |
| ENST00000680149.1:c.2992C>A | ENSP00000506497.1:p.Arg998= | |
| ENST00000680163.1:c.2992C>A | ENSP00000505092.1:p.Arg998= | |
| ENST00000680174.1:n.3683C>A | ||
| ENST00000680236.1:c.*53C>A | ENSP00000506212.1:n.*53C>A | |
| ENST00000680497.1:c.3094C>A | ENSP00000505954.1:p.Arg1032= | |
| ENST00000680508.1:c.2992C>A | ENSP00000505749.1:p.Arg998= | |
| ENST00000680569.1:c.*703C>A | ENSP00000505522.1:n.*703C>A | |
| ENST00000680630.1:n.3424C>A | ||
| ENST00000680634.1:n.21-6365C>A | ||
| ENST00000680722.1:n.792C>A | ||
| ENST00000680723.1:n.2632C>A | ||
| ENST00000680726.1:c.2992C>A | ENSP00000505505.1:p.Arg998= | |
| ENST00000680737.1:n.3263C>A | ||
| ENST00000680759.1:c.2992C>A | ENSP00000505848.1:p.Arg998= | |
| ENST00000680814.1:c.2992C>A | ENSP00000505710.1:p.Arg998= | |
| ENST00000680828.1:c.*564C>A | ENSP00000505249.1:n.*564C>A | |
| ENST00000680861.1:c.2992C>A | ENSP00000505043.1:p.Arg998= | |
| ENST00000680927.1:c.2992C>A | ENSP00000505473.1:p.Arg998= | |
| ENST00000680939.1:n.3334C>A | ||
| ENST00000681152.1:c.2992C>A | ENSP00000505388.1:p.Arg998= | |
| ENST00000681250.1:c.1472-1400C>A | ENSP00000505684.1:n.1472-1400C>A | |
| ENST00000681256.1:c.*1010C>A | ENSP00000505446.1:n.*1010C>A | |
| ENST00000681279.1:n.3760C>A | ||
| ENST00000681303.1:c.2992C>A | ENSP00000505576.1:p.Arg998= | |
| ENST00000681307.1:n.4105C>A | ||
| ENST00000681461.1:n.3760C>A | ||
| ENST00000681495.1:c.532C>A | ENSP00000506085.1:p.Arg178= | |
| ENST00000681558.1:c.670C>A | ENSP00000505568.1:p.Arg224= | |
| ENST00000681619.1:c.2992C>A | ENSP00000505071.1:p.Arg998= | |
| ENST00000681716.1:c.*703C>A | ENSP00000505078.1:n.*703C>A | |
| ENST00000681758.1:n.3334C>A | ||
| ENST00000681768.1:c.*656C>A | ENSP00000506311.1:n.*656C>A | |
| ENST00000681808.1:c.2992C>A | ENSP00000505219.1:p.Arg998= | |
| ENST00000264276.10:c.2992C>A | ENSP00000264276.6:p.Arg998= | |
| ENST00000439495.5:c.953C>A | ||
| ENST00000482891.5:n.3132C>A | ||
| ENST00000494017.5:n.519C>A | ||
| NM_020919.3:c.2992C>A | NP_065970.2:p.Arg998= | |
| XM_005246709.2:c.2992C>A | XP_005246766.1:p.Arg998= | |
| XM_006712654.1:c.2992C>A | XP_006712717.1:p.Arg998= | |
| XM_006712655.2:c.928C>A | XP_006712718.1:p.Arg310= | |
| XM_011511530.1:c.2653C>A | XP_011509832.1:p.Arg885= | |
| XM_011511531.1:c.2992C>A | XP_011509833.1:p.Arg998= | |
| XR_922974.1:n.3127C>A | ||
| XM_006712654.3:c.2992C>A | XP_006712717.1:p.Arg998= | |
| XM_006712655.3:c.928C>A | XP_006712718.1:p.Arg310= | |
| XM_017004569.2:c.2992C>A | XP_016860058.1:p.Arg998= | |
| XM_017004570.2:c.2992C>A | XP_016860059.1:p.Arg998= | |
| XM_017004572.2:c.610C>A | XP_016860061.1:p.Arg204= | |
| XM_024453024.1:c.2653C>A | XP_024308792.1:p.Arg885= | |
| XM_024453025.1:c.928C>A | XP_024308793.1:p.Arg310= | |
| XR_001738864.2:n.3127C>A | ||
| XR_001738865.2:n.3127C>A | ||
| XR_001738866.2:n.3127C>A | ||
| XR_001738867.2:n.3127C>A | ||
| XR_002959320.1:n.2183C>A | ||
| NM_020919.4:c.2992C>A MANE Select | NP_065970.2:p.Arg998= |