Revel Score:
ENST00000236959 (MANE Select)
0.283
ENST00000540518
0.283
ENST00000435675
0.283
ENST00000413174
0.283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215325296A>T , CM000664.2:g.215325296A>T | GRCh38 |
| NC_000002.11:g.216190019A>T , CM000664.1:g.216190019A>T | GRCh37 |
| NC_000002.10:g.215898264A>T | NCBI36 |
| NG_013002.1:g.18341A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236959.14:c.346A>T MANE Select | ENSP00000236959.9:p.Thr116Ser | |
| ENST00000236959.13:c.346A>T | ENSP00000236959.9:p.Thr116Ser | |
| ENST00000413174.1:c.169A>T | ENSP00000402393.1:p.Thr57Ser | |
| ENST00000427397.5:c.*396A>T | ENSP00000394317.1:n.*396A>T | |
| ENST00000435675.5:c.343A>T | ENSP00000415935.1:p.Thr115Ser | |
| ENST00000443953.5:c.*443A>T | ENSP00000406792.1:n.*443A>T | |
| ENST00000444305.5:c.*24A>T | ENSP00000388675.1:n.*24A>T | |
| ENST00000488712.5:n.558A>T | ||
| NM_004044.6:c.346A>T | NP_004035.2:p.Thr116Ser | |
| XM_017004187.2:c.346A>T | XP_016859676.1:p.Thr116Ser | |
| XM_024452919.1:c.169A>T | XP_024308687.1:p.Thr57Ser | |
| NM_004044.7:c.346A>T MANE Select | NP_004035.2:p.Thr116Ser |