COSMIC:
COSM438469 (not active)
Revel Score:
ENST00000524462
0.343
ENST00000525621 (MANE Select)
0.343
ENST00000264818
0.343
ENST00000543792
0.343
ENST00000529370
0.343
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09325102 (NFE)
Genomes Max Group AF
0.08399026 (NFE)
Exomes Max Group AF
0.09371832 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10359299A>C , CM000681.2:g.10359299A>C | GRCh38 |
| NC_000019.9:g.10469975A>C , CM000681.1:g.10469975A>C | GRCh37 |
| NC_000019.8:g.10330975A>C | NCBI36 |
| NG_007872.1:g.26274T>G , LRG_121:g.26274T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*400T>G | ENSP00000514307.1:n.*400T>G | |
| ENST00000525976.6:c.2051T>G | ENSP00000434831.2:p.Ile684Ser | |
| ENST00000527481.3:c.2051T>G | ENSP00000466340.2:p.Ile684Ser | |
| ENST00000529370.6:n.2382T>G | ||
| ENST00000529739.2:n.2465T>G | ||
| ENST00000530829.2:c.*1602T>G | ENSP00000436826.2:n.*1602T>G | |
| ENST00000531836.6:c.2051T>G | ENSP00000436175.2:p.Ile684Ser | |
| ENST00000533334.2:c.*93T>G | ENSP00000432320.2:n.*93T>G | |
| ENST00000534228.2:n.2465T>G | ||
| ENST00000699355.1:c.*111T>G | ENSP00000514328.1:n.*111T>G | |
| ENST00000699356.1:n.2465T>G | ||
| ENST00000699357.1:n.2465T>G | ||
| ENST00000699358.1:c.2051T>G | ENSP00000514329.1:p.Ile684Ser | |
| ENST00000699360.1:c.2051T>G | ENSP00000514331.1:p.Ile684Ser | |
| ENST00000525621.6:c.2051T>G MANE Select | ENSP00000431885.1:p.Ile684Ser | |
| ENST00000264818.10:c.2051T>G | ENSP00000264818.6:p.Ile684Ser | |
| ENST00000524462.5:c.1496T>G | ENSP00000433203.1:p.Ile499Ser | |
| ENST00000525621.5:c.2051T>G | ENSP00000431885.1:p.Ile684Ser | |
| ENST00000529370.5:c.2051T>G | ENSP00000432728.1:p.Ile684Ser | |
| ENST00000533334.1:c.340T>G | ||
| NM_003331.4:c.2051T>G , LRG_121t1:c.2051T>G | NP_003322.3:p.Ile684Ser | |
| XM_011528245.1:c.2051T>G | XP_011526547.1:p.Ile684Ser | |
| XM_011528246.1:c.1754T>G | XP_011526548.1:p.Ile585Ser | |
| XM_011528247.1:c.1754T>G | XP_011526549.1:p.Ile585Ser | |
| XM_011528248.1:c.2051T>G | XP_011526550.1:p.Ile684Ser | |
| XM_011528249.1:c.725T>G | XP_011526551.1:p.Ile242Ser | |
| XM_011528251.1:c.308T>G | XP_011526553.1:p.Ile103Ser | |
| XM_011528246.3:c.1754T>G | XP_011526548.1:p.Ile585Ser | |
| XM_011528249.2:c.725T>G | XP_011526551.1:p.Ile242Ser | |
| XR_001753750.1:n.2208T>G | ||
| XR_001753751.1:n.2208T>G | ||
| XR_001753752.1:n.2320T>G | ||
| XR_002958353.1:n.2089T>G | ||
| NM_003331.5:c.2051T>G MANE Select | NP_003322.3:p.Ile684Ser | |
| NM_001385197.1:c.2051T>G | NP_001372126.1:p.Ile684Ser | |
| NM_001385198.1:c.2051T>G | NP_001372127.1:p.Ile684Ser | |
| NM_001385199.1:c.1865T>G | NP_001372128.1:p.Ile622Ser | |
| NM_001385200.1:c.2051T>G | NP_001372129.1:p.Ile684Ser | |
| NM_001385201.1:c.1853T>G | NP_001372130.1:p.Ile618Ser | |
| NM_001385202.1:c.1967T>G | NP_001372131.1:p.Ile656Ser | |
| NM_001385203.1:c.2051T>G | NP_001372132.1:p.Ile684Ser | |
| NM_001385204.1:c.2051T>G | NP_001372133.1:p.Ile684Ser | |
| NM_001385205.1:c.1961T>G | NP_001372134.1:p.Ile654Ser | |
| NM_001385206.1:c.1925T>G | NP_001372135.1:p.Ile642Ser | |
| NM_001385207.1:c.2033T>G | NP_001372136.1:p.Ile678Ser |