Revel Score:
ENST00000228347 (MANE Select)
0.448
ENST00000539066
0.448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106444494A>T , CM000674.2:g.106444494A>T | GRCh38 |
| NC_000012.11:g.106838272A>T , CM000674.1:g.106838272A>T | GRCh37 |
| NC_000012.10:g.105362402A>T | NCBI36 |
| NG_031837.1:g.91837A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.1987A>T MANE Select | ENSP00000228347.4:p.Thr663Ser | |
| ENST00000228347.8:c.1987A>T | ENSP00000228347.4:p.Thr663Ser | |
| ENST00000539066.5:c.1813A>T | ENSP00000445721.1:p.Thr605Ser | |
| NM_001160708.1:c.1813A>T | NP_001154180.1:p.Thr605Ser | |
| NM_018082.5:c.1987A>T | NP_060552.4:p.Thr663Ser | |
| XM_017019621.2:c.1987A>T | XP_016875110.1:p.Thr663Ser | |
| NM_018082.6:c.1987A>T MANE Select | NP_060552.4:p.Thr663Ser | |
| NM_001160708.2:c.1813A>T | NP_001154180.1:p.Thr605Ser |