COSMIC:
COSM3999093 (not active)
Revel Score:
ENST00000441843
0.036
ENST00000325686 (MANE Select)
0.036
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36389055 (AMR)
Genomes Max Group AF
0.3179684 (AMR)
Exomes Max Group AF
0.37773214 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.43883789A>G , CM000675.2:g.43883789A>G | GRCh38 |
| NC_000013.10:g.44457925A>G , CM000675.1:g.44457925A>G | GRCh37 |
| NC_000013.9:g.43355925A>G | NCBI36 |
| NG_053160.1:g.9956A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325686.7:c.760A>G MANE Select | ENSP00000317619.5:p.Ile254Val | |
| ENST00000325686.6:c.760A>G | ENSP00000317619.5:p.Ile254Val | |
| ENST00000441843.5:c.760A>G | ENSP00000391747.1:p.Ile254Val | |
| NM_001128303.1:c.760A>G | NP_001121775.1:p.Ile254Val | |
| NM_153218.2:c.760A>G | NP_694950.2:p.Ile254Val | |
| XM_005266261.2:c.760A>G | XP_005266318.1:p.Ile254Val | |
| XM_006719766.2:c.760A>G | XP_006719829.1:p.Ile254Val | |
| XM_006719767.2:c.760A>G | XP_006719830.1:p.Ile254Val | |
| XM_011534933.1:c.760A>G | XP_011533235.1:p.Ile254Val | |
| XM_011534934.1:c.760A>G | XP_011533236.1:p.Ile254Val | |
| XM_011534935.1:c.760A>G | XP_011533237.1:p.Ile254Val | |
| NM_001128303.2:c.760A>G | NP_001121775.1:p.Ile254Val | |
| NM_001350638.1:c.760A>G | NP_001337567.1:p.Ile254Val | |
| NM_001350639.1:c.760A>G | NP_001337568.1:p.Ile254Val | |
| NM_001350640.1:c.760A>G | NP_001337569.1:p.Ile254Val | |
| NM_001350641.1:c.760A>G | NP_001337570.1:p.Ile254Val | |
| NM_001350642.1:c.760A>G | NP_001337571.1:p.Ile254Val | |
| NM_001350643.1:c.760A>G | NP_001337572.1:p.Ile254Val | |
| NM_001350644.1:c.-9A>G | NP_001337573.1:n.-9A>G | |
| NM_001350645.1:c.-9A>G | NP_001337574.1:n.-9A>G | |
| NM_001350646.1:c.-9A>G | NP_001337575.1:n.-9A>G | |
| NM_001350647.1:c.-9A>G | NP_001337576.1:n.-9A>G | |
| NM_001350648.1:c.-9A>G | NP_001337577.1:n.-9A>G | |
| NM_153218.3:c.760A>G | NP_694950.2:p.Ile254Val | |
| XM_006719766.3:c.760A>G | XP_006719829.1:p.Ile254Val | |
| XM_011534935.3:c.760A>G | XP_011533237.1:p.Ile254Val | |
| XM_024449319.1:c.760A>G | XP_024305087.1:p.Ile254Val | |
| XM_024449320.1:c.-9A>G | XP_024305088.1:n.-9A>G | |
| XM_024449321.1:c.-9A>G | XP_024305089.1:n.-9A>G | |
| NM_153218.4:c.760A>G MANE Select | NP_694950.2:p.Ile254Val | |
| NM_001350638.2:c.760A>G | NP_001337567.1:p.Ile254Val | |
| NM_001350639.2:c.760A>G | NP_001337568.1:p.Ile254Val | |
| NM_001350640.2:c.760A>G | NP_001337569.1:p.Ile254Val | |
| NM_001350641.2:c.760A>G | NP_001337570.1:p.Ile254Val | |
| NM_001350642.2:c.760A>G | NP_001337571.1:p.Ile254Val | |
| NM_001350643.2:c.760A>G | NP_001337572.1:p.Ile254Val | |
| NM_001350644.2:c.-9A>G | NP_001337573.1:n.-9A>G | |
| NM_001350645.2:c.-9A>G | NP_001337574.1:n.-9A>G | |
| NM_001350646.2:c.-9A>G | NP_001337575.1:n.-9A>G | |
| NM_001350647.2:c.-9A>G | NP_001337576.1:n.-9A>G | |
| NM_001350648.2:c.-9A>G | NP_001337577.1:n.-9A>G |