COSMIC:
COSM4557031 (not active)
Revel Score:
ENST00000377869
0.955
ENST00000543313
0.955
ENST00000220616 (MANE Select)
0.955
ENST00000542445
0.955
ENST00000519543
0.955
ENST00000519178
0.792
ENST00000518108
0.792
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007506 (SAS)
Genomes Max Group AF
0.00007285 (SAS)
Exomes Max Group AF
0.00006246 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133029907G>A , CM000670.2:g.133029907G>A | GRCh38 |
| NC_000008.10:g.134042152G>A , CM000670.1:g.134042152G>A | GRCh37 |
| NC_000008.9:g.134111334G>A | NCBI36 |
| NG_015832.1:g.167948G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.7123G>A MANE Select | ENSP00000220616.4:p.Gly2375Arg | |
| ENST00000220616.8:c.7123G>A | ENSP00000220616.4:p.Gly2375Arg | |
| ENST00000518108.1:c.509G>A | ||
| ENST00000519178.5:c.2489G>A | ||
| ENST00000519543.5:c.1522G>A | ENSP00000430430.1:p.Gly508Arg | |
| ENST00000523756.5:c.3778G>A | ||
| NM_003235.4:c.7123G>A | NP_003226.4:p.Gly2375Arg | |
| XM_005251038.3:c.6931G>A | XP_005251095.1:p.Gly2311Arg | |
| XM_006716622.2:c.7060G>A | XP_006716685.1:p.Gly2354Arg | |
| XM_005251038.4:c.6931G>A | XP_005251095.1:p.Gly2311Arg | |
| XM_006716622.3:c.7060G>A | XP_006716685.1:p.Gly2354Arg | |
| XM_017013793.1:c.7057G>A | XP_016869282.1:p.Gly2353Arg | |
| XM_017013794.1:c.7123G>A | XP_016869283.1:p.Gly2375Arg | |
| XM_017013795.1:c.6952G>A | XP_016869284.1:p.Gly2318Arg | |
| XM_017013796.1:c.6904G>A | XP_016869285.1:p.Gly2302Arg | |
| XM_017013797.1:c.6862G>A | XP_016869286.1:p.Gly2288Arg | |
| XM_017013798.1:c.7123G>A | XP_016869287.1:p.Gly2375Arg | |
| NM_003235.5:c.7123G>A MANE Select | NP_003226.4:p.Gly2375Arg |