Revel Score:
ENST00000311322
0.775
ENST00000538071
0.775
ENST00000535763
0.775
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955876T>A , CM000670.2:g.19955876T>A | GRCh38 |
| NC_000008.10:g.19813387T>A , CM000670.1:g.19813387T>A | GRCh37 |
| NC_000008.9:g.19857667T>A | NCBI36 |
| NG_008855.1:g.21806T>A | |
| NG_008855.2:g.59160T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.811T>A MANE Select | ENSP00000497642.1:p.Ser271Thr | |
| ENST00000311322.8:c.811T>A | ENSP00000309757.6:p.Ser271Thr | |
| NM_000237.2:c.811T>A | NP_000228.1:p.Ser271Thr | |
| NM_000237.3:c.811T>A MANE Select | NP_000228.1:p.Ser271Thr |