COSMIC:
COSM148065 (not active)
COSM3754832 (not active)
COSM3754833 (not active)
Revel Score:
ENST00000322610
0.030
ENST00000545570
0.030
ENST00000359285
0.030
ENST00000538342
0.030
ENST00000395532
0.030
ENST00000337120
0.030
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46707306 (AMR)
Genomes Max Group AF
0.40043548 (AMR)
Exomes Max Group AF
0.4872302 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28871920A>G , CM000678.2:g.28871920A>G | GRCh38 |
| NC_000016.9:g.28883241A>G , CM000678.1:g.28883241A>G | GRCh37 |
| NC_000016.8:g.28790742A>G | NCBI36 |
| NG_029706.2:g.30321A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359285.10:c.1450A>G | ENSP00000352232.5:p.Thr484Ala | |
| ENST00000707128.1:c.1450A>G | ENSP00000516756.1:p.Thr484Ala | |
| ENST00000684370.1:c.1450A>G MANE Select | ENSP00000507475.1:p.Thr484Ala | |
| ENST00000322610.12:c.1450A>G | ENSP00000321221.7:p.Thr484Ala | |
| ENST00000337120.9:c.1450A>G | ENSP00000337163.5:p.Thr484Ala | |
| ENST00000359285.9:c.1450A>G | ENSP00000352232.5:p.Thr484Ala | |
| ENST00000395532.8:c.1450A>G | ENSP00000378903.4:p.Thr484Ala | |
| ENST00000538342.5:c.442A>G | ENSP00000438784.1:p.Thr148Ala | |
| ENST00000545570.5:c.520A>G | ENSP00000440354.1:p.Thr174Ala | |
| ENST00000563674.1:n.69-1008A>G | ||
| ENST00000566176.5:c.511A>G | ENSP00000455534.1:p.Thr171Ala | |
| ENST00000569471.1:n.321A>G | ||
| ENST00000618521.4:c.1450A>G | ENSP00000481709.1:p.Thr484Ala | |
| NM_001145795.1:c.1450A>G | NP_001139267.1:p.Thr484Ala | |
| NM_001145796.1:c.1450A>G | NP_001139268.1:p.Thr484Ala | |
| NM_001145797.1:c.1450A>G | NP_001139269.1:p.Thr484Ala | |
| NM_001145812.1:c.1450A>G | NP_001139284.1:p.Thr484Ala | |
| NM_001308293.1:c.1450A>G | NP_001295222.1:p.Thr484Ala | |
| NM_001308294.1:c.442A>G | NP_001295223.1:p.Thr148Ala | |
| NM_015503.2:c.1450A>G | NP_056318.2:p.Thr484Ala | |
| XM_006721031.2:c.1450A>G | XP_006721094.1:p.Thr484Ala | |
| XM_006721032.2:c.1450A>G | XP_006721095.1:p.Thr484Ala | |
| XM_006721033.2:c.1450A>G | XP_006721096.1:p.Thr484Ala | |
| XM_006721034.2:c.1450A>G | XP_006721097.1:p.Thr484Ala | |
| XM_006721037.2:c.442A>G | XP_006721100.1:p.Thr148Ala | |
| XM_011545787.1:c.1310-270A>G | XP_011544089.1:n.1310-270A>G | |
| XM_011545788.1:c.1450A>G | XP_011544090.1:p.Thr484Ala | |
| XR_950774.1:n.2164A>G | ||
| XM_017023114.1:c.1450A>G | XP_016878603.1:p.Thr484Ala | |
| XM_017023115.1:c.1450A>G | XP_016878604.1:p.Thr484Ala | |
| XM_017023116.1:c.1450A>G | XP_016878605.1:p.Thr484Ala | |
| XM_017023117.1:c.1310-270A>G | XP_016878606.1:n.1310-270A>G | |
| XM_017023118.1:c.442A>G | XP_016878607.1:p.Thr148Ala | |
| XM_017023119.1:c.442A>G | XP_016878608.1:p.Thr148Ala | |
| XM_017023120.1:c.355A>G | XP_016878609.1:p.Thr119Ala | |
| XM_024450225.1:c.1310-270A>G | XP_024305993.1:n.1310-270A>G | |
| XM_024450226.1:c.442A>G | XP_024305994.1:p.Thr148Ala | |
| XR_001751890.2:n.2141A>G | ||
| NM_001145795.2:c.1450A>G | NP_001139267.1:p.Thr484Ala | |
| NM_001145796.2:c.1450A>G | NP_001139268.1:p.Thr484Ala | |
| NM_001145797.2:c.1450A>G | NP_001139269.1:p.Thr484Ala | |
| NM_001145812.2:c.1450A>G | NP_001139284.1:p.Thr484Ala | |
| NM_001308293.2:c.1450A>G | NP_001295222.1:p.Thr484Ala | |
| NM_001308294.2:c.442A>G | NP_001295223.1:p.Thr148Ala | |
| NM_001387404.1:c.1450A>G | NP_001374333.1:p.Thr484Ala | |
| NM_001387430.1:c.1450A>G MANE Select | NP_001374359.1:p.Thr484Ala | |
| NM_015503.3:c.1450A>G | NP_056318.2:p.Thr484Ala |