Revel Score:
ENST00000367797 (MANE Select)
0.303
ENST00000367796
0.303
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169530941T>A , CM000663.2:g.169530941T>A | GRCh38 |
| NC_000001.10:g.169500179T>A , CM000663.1:g.169500179T>A | GRCh37 |
| NC_000001.9:g.167766803T>A | NCBI36 |
| NG_011806.1:g.60591A>T , LRG_553:g.60591A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.5053A>T MANE Select | ENSP00000356771.3:p.Thr1685Ser | |
| ENST00000367796.3:c.5068A>T | ENSP00000356770.3:p.Thr1690Ser | |
| ENST00000367797.7:c.5053A>T | ENSP00000356771.3:p.Thr1685Ser | |
| NM_000130.4:c.5053A>T , LRG_553t1:c.5053A>T | NP_000121.2:p.Thr1685Ser | |
| XM_017000660.2:c.4642A>T | XP_016856149.1:p.Thr1548Ser | |
| NM_000130.5:c.5053A>T MANE Select | NP_000121.2:p.Thr1685Ser |