COSMIC:
COSM3927616 (not active)
Revel Score:
ENST00000368041
0.041
ENST00000341032
0.041
ENST00000368040
0.041
ENST00000263285 (MANE Select)
0.041
ENST00000392203
0.041
ENST00000368037
0.041
ENST00000368036
0.041
ENST00000368035
0.041
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74893964 (AFR)
Genomes Max Group AF
0.74284866 (AFR)
Exomes Max Group AF
0.75168335 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160823770A>G , CM000663.2:g.160823770A>G | GRCh38 |
| NC_000001.10:g.160793560A>G , CM000663.1:g.160793560A>G | GRCh37 |
| NC_000001.9:g.159060184A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263285.11:c.1804A>G MANE Select | ENSP00000263285.5:p.Met602Val | |
| ENST00000263285.10:c.1804A>G | ENSP00000263285.5:p.Met602Val | |
| ENST00000368035.1:c.929A>G | ||
| ENST00000368037.9:c.1762A>G | ENSP00000357016.5:p.Met588Val | |
| ENST00000392203.8:c.1534A>G | ENSP00000376039.4:p.Met512Val | |
| NM_001261456.1:c.1762A>G | NP_001248385.1:p.Met588Val | |
| NM_001261457.1:c.1534A>G | NP_001248386.1:p.Met512Val | |
| NM_002348.3:c.1804A>G | NP_002339.2:p.Met602Val | |
| XM_011509548.1:c.1945A>G | XP_011507850.1:p.Met649Val | |
| XM_011509549.1:c.1945A>G | XP_011507851.1:p.Met649Val | |
| XM_011509550.1:c.1945A>G | XP_011507852.1:p.Met649Val | |
| XM_011509551.1:c.1903A>G | XP_011507853.1:p.Met635Val | |
| XM_011509552.1:c.1945A>G | XP_011507854.1:p.Met649Val | |
| XM_011509553.1:c.1846A>G | XP_011507855.1:p.Met616Val | |
| XM_011509554.1:c.1804A>G | XP_011507856.1:p.Met602Val | |
| XM_011509555.1:c.1675A>G | XP_011507857.1:p.Met559Val | |
| XM_011509556.1:c.1675A>G | XP_011507858.1:p.Met559Val | |
| XM_011509557.1:c.1633A>G | XP_011507859.1:p.Met545Val | |
| XM_011509558.1:c.1324A>G | XP_011507860.1:p.Met442Val | |
| XM_011509559.1:c.1057A>G | XP_011507861.1:p.Met353Val | |
| XM_011509560.1:c.1633A>G | XP_011507862.1:p.Met545Val | |
| XM_017001297.1:c.1945A>G | XP_016856786.1:p.Met649Val | |
| XM_017001298.1:c.1903A>G | XP_016856787.1:p.Met635Val | |
| XM_017001299.1:c.1903A>G | XP_016856788.1:p.Met635Val | |
| XM_017001300.1:c.1846A>G | XP_016856789.1:p.Met616Val | |
| XM_017001301.1:c.1804A>G | XP_016856790.1:p.Met602Val | |
| XM_017001302.1:c.1675A>G | XP_016856791.1:p.Met559Val | |
| XM_017001303.1:c.1633A>G | XP_016856792.1:p.Met545Val | |
| XM_017001304.1:c.1324A>G | XP_016856793.1:p.Met442Val | |
| NM_002348.4:c.1804A>G MANE Select | NP_002339.2:p.Met602Val | |
| NM_001261456.2:c.1762A>G | NP_001248385.1:p.Met588Val | |
| NM_001261457.2:c.1534A>G | NP_001248386.1:p.Met512Val |