Revel Score:
ENST00000228347 (MANE Select)
0.464
ENST00000539066
0.464
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106444495C>G , CM000674.2:g.106444495C>G | GRCh38 |
| NC_000012.11:g.106838273C>G , CM000674.1:g.106838273C>G | GRCh37 |
| NC_000012.10:g.105362403C>G | NCBI36 |
| NG_031837.1:g.91838C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.1988C>G MANE Select | ENSP00000228347.4:p.Thr663Ser | |
| ENST00000228347.8:c.1988C>G | ENSP00000228347.4:p.Thr663Ser | |
| ENST00000539066.5:c.1814C>G | ENSP00000445721.1:p.Thr605Ser | |
| NM_001160708.1:c.1814C>G | NP_001154180.1:p.Thr605Ser | |
| NM_018082.5:c.1988C>G | NP_060552.4:p.Thr663Ser | |
| XM_017019621.2:c.1988C>G | XP_016875110.1:p.Thr663Ser | |
| NM_018082.6:c.1988C>G MANE Select | NP_060552.4:p.Thr663Ser | |
| NM_001160708.2:c.1814C>G | NP_001154180.1:p.Thr605Ser |