Revel Score:
ENST00000545712 (MANE Select)
0.946
ENST00000542390
0.946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109568773A>G , CM000674.2:g.109568773A>G | GRCh38 |
| NC_000012.11:g.110006578A>G , CM000674.1:g.110006578A>G | GRCh37 |
| NC_000012.10:g.108490961A>G | NCBI36 |
| NG_007096.1:g.9725T>C | |
| NG_007702.1:g.79A>G , LRG_156:g.79A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.287T>C MANE Select | ENSP00000445920.1:p.Ile96Thr | |
| ENST00000420167.6:c.*116T>C | ENSP00000416136.2:n.*116T>C | |
| ENST00000503497.7:c.287T>C | ENSP00000474881.1:p.Ile96Thr | |
| ENST00000536760.1:n.290T>C | ||
| ENST00000537236.2:c.287T>C | ENSP00000483818.1:p.Ile96Thr | |
| ENST00000537496.5:c.287T>C | ENSP00000444793.1:p.Ile96Thr | |
| ENST00000540016.5:c.135-3597T>C | ENSP00000474582.1:n.135-3597T>C | |
| ENST00000541763.6:c.287T>C | ENSP00000474981.1:p.Ile96Thr | |
| ENST00000542390.5:n.314T>C | ||
| ENST00000544051.5:c.*81T>C | ENSP00000438079.1:n.*81T>C | |
| ENST00000545712.6:c.287T>C | ENSP00000445920.1:p.Ile96Thr | |
| NM_052845.3:c.287T>C | NP_443077.1:p.Ile96Thr | |
| NR_038118.1:n.360T>C | ||
| XM_024448961.1:c.287T>C | XP_024304729.1:p.Ile96Thr | |
| NM_052845.4:c.287T>C MANE Select | NP_443077.1:p.Ile96Thr | |
| NR_038118.2:n.311T>C |