Revel Score:
ENST00000358545
0.920
ENST00000405262
0.920
ENST00000239849
0.920
ENST00000398795 (MANE Select)
0.920
ENST00000544862
0.920
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42606745A>G , CM000675.2:g.42606745A>G | GRCh38 |
| NC_000013.10:g.43180881A>G , CM000675.1:g.43180881A>G | GRCh37 |
| NC_000013.9:g.42078881A>G | NCBI36 |
| NG_008990.1:g.49010A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398795.7:c.781A>G MANE Select | ENSP00000381775.3:p.Thr261Ala | |
| ENST00000239849.8:c.640A>G | ENSP00000239849.7:p.Thr214Ala | |
| ENST00000358545.6:c.562A>G | ENSP00000351347.2:p.Thr188Ala | |
| ENST00000398795.6:c.781A>G | ENSP00000381775.3:p.Thr261Ala | |
| ENST00000405262.6:c.562A>G | ENSP00000384042.2:p.Thr188Ala | |
| ENST00000544862.5:c.562A>G | ENSP00000444913.1:p.Thr188Ala | |
| NM_003701.3:c.781A>G | NP_003692.1:p.Thr261Ala | |
| NM_033012.3:c.562A>G | NP_143026.1:p.Thr188Ala | |
| XM_011535280.1:c.562A>G | XP_011533582.1:p.Thr188Ala | |
| XM_011535280.2:c.562A>G | XP_011533582.1:p.Thr188Ala | |
| XM_017020802.1:c.619A>G | XP_016876291.1:p.Thr207Ala | |
| XM_017020803.2:c.562A>G | XP_016876292.1:p.Thr188Ala | |
| NM_003701.4:c.781A>G MANE Select | NP_003692.1:p.Thr261Ala | |
| NM_033012.4:c.562A>G | NP_143026.1:p.Thr188Ala |