COSMIC:
COSM4407115 (not active)
COSM4407116 (not active)
Revel Score:
ENST00000451292
0.154
ENST00000377797
0.154
ENST00000445265
0.154
ENST00000323668
0.154
ENST00000439160
0.154
ENST00000427724
0.154
ENST00000504761
0.154
ENST00000513346
0.154
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35801458 (SAS)
Genomes Max Group AF
0.34934632 (SAS)
Exomes Max Group AF
0.35779976 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150396669C>T , CM000667.2:g.150396669C>T | GRCh38 |
| NC_000005.9:g.149776232C>T , CM000667.1:g.149776232C>T | GRCh37 |
| NC_000005.8:g.149756425C>T | NCBI36 |
| NG_011341.1:g.44031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427724.7:c.4055C>T | ENSP00000390717.3:p.Ala1352Val | |
| ENST00000643257.2:c.4172C>T MANE Select | ENSP00000493815.1:p.Ala1391Val | |
| ENST00000650162.1:c.3827C>T | ENSP00000497075.1:p.Ala1276Val | |
| ENST00000674413.1:c.3571C>T | ||
| ENST00000323668.11:c.3938C>T | ENSP00000325223.6:p.Ala1313Val | |
| ENST00000377797.7:c.4169C>T | ENSP00000367028.4:p.Ala1390Val | |
| ENST00000427724.6:c.4055C>T | ENSP00000390717.2:p.Ala1352Val | |
| ENST00000439160.6:c.4058C>T | ENSP00000406888.2:p.Ala1353Val | |
| ENST00000445265.6:c.3941C>T | ENSP00000409944.2:p.Ala1314Val | |
| ENST00000504761.6:c.4169C>T | ENSP00000421655.2:p.Ala1390Val | |
| ENST00000513346.5:c.4169C>T | ENSP00000427484.1:p.Ala1390Val | |
| ENST00000515516.1:c.343-74C>T | ENSP00000426471.1:n.343-74C>T | |
| NM_000356.3:c.3938C>T | NP_000347.2:p.Ala1313Val | |
| NM_001135243.1:c.4169C>T | NP_001128715.1:p.Ala1390Val | |
| NM_001135244.1:c.4058C>T | NP_001128716.1:p.Ala1353Val | |
| NM_001135245.1:c.3941C>T | NP_001128717.1:p.Ala1314Val | |
| NM_001195141.1:c.4055C>T | NP_001182070.1:p.Ala1352Val | |
| XM_005268502.2:c.4283C>T | XP_005268559.1:p.Ala1428Val | |
| XM_005268503.2:c.4280C>T | XP_005268560.1:p.Ala1427Val | |
| XM_005268504.2:c.4280C>T | XP_005268561.1:p.Ala1427Val | |
| XM_005268505.2:c.4172C>T | XP_005268562.1:p.Ala1391Val | |
| XM_005268506.2:c.4169C>T | XP_005268563.1:p.Ala1390Val | |
| XM_005268507.2:c.4052C>T | XP_005268564.1:p.Ala1351Val | |
| XM_011537678.1:c.4103C>T | XP_011535980.1:p.Ala1368Val | |
| XM_005268502.4:c.4283C>T | XP_005268559.1:p.Ala1428Val | |
| XM_005268503.4:c.4280C>T | XP_005268560.1:p.Ala1427Val | |
| XM_005268504.4:c.4280C>T | XP_005268561.1:p.Ala1427Val | |
| XM_005268505.4:c.4172C>T | XP_005268562.1:p.Ala1391Val | |
| XM_005268506.4:c.4169C>T | XP_005268563.1:p.Ala1390Val | |
| XM_005268507.4:c.4052C>T | XP_005268564.1:p.Ala1351Val | |
| XM_011537678.3:c.4103C>T | XP_011535980.1:p.Ala1368Val | |
| XM_017009792.2:c.4166C>T | XP_016865281.1:p.Ala1389Val | |
| XM_017009793.2:c.3992C>T | XP_016865282.1:p.Ala1331Val | |
| XM_017009794.2:c.3878C>T | XP_016865283.1:p.Ala1293Val | |
| XR_427778.3:n.4289C>T | ||
| XR_427780.3:n.4178C>T | ||
| NM_000356.4:c.3938C>T | NP_000347.2:p.Ala1313Val | |
| NM_001135244.2:c.4058C>T | NP_001128716.1:p.Ala1353Val | |
| NM_001135245.2:c.3941C>T | NP_001128717.1:p.Ala1314Val | |
| NM_001195141.2:c.4055C>T | NP_001182070.1:p.Ala1352Val | |
| NM_001371623.1:c.4172C>T MANE Select | NP_001358552.1:p.Ala1391Val | |
| NM_001135243.2:c.4169C>T | NP_001128715.1:p.Ala1390Val |