COSMIC:
COSM142771 (not active)
Revel Score:
ENST00000427191
0.025
ENST00000436978
0.025
ENST00000316707
0.025
ENST00000411767 (MANE Select)
0.025
ENST00000511467
0.025
ENST00000357349
0.025
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33824954 (EAS)
Genomes Max Group AF
0.2921664 (EAS)
Exomes Max Group AF
0.34289982 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.86769845A>G , CM000666.2:g.86769845A>G | GRCh38 |
| NC_000004.11:g.87690998A>G , CM000666.1:g.87690998A>G | GRCh37 |
| NC_000004.10:g.87910022A>G | NCBI36 |
| NG_029704.1:g.180531A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411767.7:c.4566A>G MANE Select | ENSP00000407249.2:p.Ile1522Met | |
| ENST00000316707.10:c.3993A>G | ENSP00000322675.6:p.Ile1331Met | |
| ENST00000411767.6:c.4566A>G | ENSP00000407249.2:p.Ile1522Met | |
| ENST00000427191.6:c.4509A>G | ENSP00000408368.2:p.Ile1503Met | |
| ENST00000436978.5:c.4581A>G | ENSP00000394794.1:p.Ile1527Met | |
| ENST00000511467.1:c.4581A>G | ENSP00000426626.1:p.Ile1527Met | |
| NM_006264.2:c.4509A>G | NP_006255.1:p.Ile1503Met | |
| NM_080683.2:c.4566A>G | NP_542414.1:p.Ile1522Met | |
| NM_080684.2:c.3993A>G | NP_542415.1:p.Ile1331Met | |
| NM_080685.2:c.4581A>G | NP_542416.1:p.Ile1527Met | |
| XM_005263167.1:c.4584A>G | XP_005263224.1:p.Ile1528Met | |
| XM_011532163.1:c.4599A>G | XP_011530465.1:p.Ile1533Met | |
| XM_011532164.1:c.4584A>G | XP_011530466.1:p.Ile1528Met | |
| XM_011532165.1:c.4581A>G | XP_011530467.1:p.Ile1527Met | |
| XM_011532166.1:c.4599A>G | XP_011530468.1:p.Ile1533Met | |
| XM_011532167.1:c.4542A>G | XP_011530469.1:p.Ile1514Met | |
| XM_011532168.1:c.4599A>G | XP_011530470.1:p.Ile1533Met | |
| XM_011532169.1:c.4527A>G | XP_011530471.1:p.Ile1509Met | |
| XM_011532170.1:c.4038A>G | XP_011530472.1:p.Ile1346Met | |
| XM_011532171.1:c.4026A>G | XP_011530473.1:p.Ile1342Met | |
| XM_011532172.1:c.4011A>G | XP_011530474.1:p.Ile1337Met | |
| XM_011532165.2:c.4581A>G | XP_011530467.1:p.Ile1527Met | |
| XM_017008511.2:c.4566A>G | XP_016864000.1:p.Ile1522Met | |
| XM_017008512.2:c.4524A>G | XP_016864001.1:p.Ile1508Met | |
| XM_017008513.2:c.4509A>G | XP_016864002.1:p.Ile1503Met | |
| XM_017008514.2:c.4524A>G | XP_016864003.1:p.Ile1508Met | |
| XM_017008515.2:c.4020A>G | XP_016864004.1:p.Ile1340Met | |
| XM_017008516.2:c.4008A>G | XP_016864005.1:p.Ile1336Met | |
| NM_080683.3:c.4566A>G MANE Select | NP_542414.1:p.Ile1522Met | |
| NM_006264.3:c.4509A>G | NP_006255.1:p.Ile1503Met | |
| NM_080684.3:c.3993A>G | NP_542415.1:p.Ile1331Met | |
| NM_080685.3:c.4581A>G | NP_542416.1:p.Ile1527Met |