COSMIC:
COSM1685340 (not active)
Revel Score:
ENST00000420009
0.022
ENST00000237289
0.022
ENST00000535574
0.022
ENST00000535332
0.022
ENST00000539356
0.022
ENST00000544646
0.022
ENST00000536070
0.022
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36115663 (AFR)
Genomes Max Group AF
0.35794989 (AFR)
Exomes Max Group AF
0.3617952 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137874929T>G , CM000668.2:g.137874929T>G | GRCh38 |
| NC_000006.11:g.138196066T>G , CM000668.1:g.138196066T>G | GRCh37 |
| NC_000006.10:g.138237759T>G | NCBI36 |
| NG_032761.1:g.12486T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420009.6:c.380T>G | ENSP00000401562.2:p.Phe127Cys | |
| ENST00000711061.1:c.*103T>G | ENSP00000518561.1:n.*103T>G | |
| ENST00000421450.2:c.380T>G | ENSP00000393577.2:p.Phe127Cys | |
| ENST00000433680.2:c.380T>G | ENSP00000409845.2:p.Phe127Cys | |
| ENST00000485192.2:n.189T>G | ||
| ENST00000698329.1:n.569T>G | ||
| ENST00000698330.1:n.295+3407T>G | ||
| ENST00000612899.5:c.380T>G MANE Select | ENSP00000481570.1:p.Phe127Cys | |
| ENST00000237289.8:c.380T>G | ENSP00000237289.4:p.Phe127Cys | |
| ENST00000420009.5:c.380T>G | ENSP00000401562.1:p.Phe127Cys | |
| ENST00000612899.4:c.380T>G | ENSP00000481570.1:p.Phe127Cys | |
| ENST00000614035.4:c.380T>G | ENSP00000481122.2:p.Phe127Cys | |
| ENST00000615468.4:c.380T>G | ENSP00000479556.1:p.Phe127Cys | |
| ENST00000619035.4:c.380T>G | ENSP00000478438.1:p.Phe127Cys | |
| ENST00000620204.3:c.380T>G | ENSP00000481454.1:p.Phe127Cys | |
| ENST00000621150.3:c.380T>G | ENSP00000484332.2:p.Phe127Cys | |
| NM_001270507.1:c.380T>G | NP_001257436.1:p.Phe127Cys | |
| NM_001270508.1:c.380T>G | NP_001257437.1:p.Phe127Cys | |
| NM_006290.3:c.380T>G | NP_006281.1:p.Phe127Cys | |
| XM_005267119.1:c.380T>G | XP_005267176.1:p.Phe127Cys | |
| XM_006715555.1:c.-272T>G | XP_006715618.1:n.-272T>G | |
| XM_011536095.1:c.380T>G | XP_011534397.1:p.Phe127Cys | |
| XM_011536096.1:c.380T>G | XP_011534398.1:p.Phe127Cys | |
| XM_011536096.2:c.380T>G | XP_011534398.1:p.Phe127Cys | |
| XM_024446532.1:c.380T>G | XP_024302300.1:p.Phe127Cys | |
| XM_024446533.1:c.380T>G | XP_024302301.1:p.Phe127Cys | |
| NM_001270508.2:c.380T>G MANE Select | NP_001257437.1:p.Phe127Cys | |
| NM_001270507.2:c.380T>G | NP_001257436.1:p.Phe127Cys | |
| NM_006290.4:c.380T>G | NP_006281.1:p.Phe127Cys |