Revel Score:
ENST00000545712 (MANE Select)
0.976
ENST00000266839
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561056G>T , CM000674.2:g.109561056G>T | GRCh38 |
| NC_000012.11:g.109998861G>T , CM000674.1:g.109998861G>T | GRCh37 |
| NC_000012.10:g.108483244G>T | NCBI36 |
| NG_007096.1:g.17442C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.568C>A MANE Select | ENSP00000445920.1:p.Arg190Ser | |
| ENST00000537496.5:c.*133C>A | ENSP00000444793.1:n.*133C>A | |
| ENST00000540016.5:c.412C>A | ENSP00000474582.1:p.Arg138Ser | |
| ENST00000541763.6:c.793C>A | ENSP00000474981.1:n.793C>A | |
| ENST00000544051.5:c.*449C>A | ENSP00000438079.1:n.*449C>A | |
| ENST00000545712.6:c.568C>A | ENSP00000445920.1:p.Arg190Ser | |
| NM_052845.3:c.568C>A | NP_443077.1:p.Arg190Ser | |
| NR_038118.1:n.728C>A | ||
| XM_011538266.1:c.413C>A | XP_011536568.1:p.Pro138Gln | |
| XM_011538267.1:c.413C>A | XP_011536569.1:p.Pro138Gln | |
| XM_011538268.1:c.295C>A | XP_011536570.1:p.Arg99Ser | |
| XM_011538269.1:c.292C>A | XP_011536571.1:p.Arg98Ser | |
| XM_011538267.3:c.413C>A | XP_011536569.1:p.Pro138Gln | |
| XM_011538268.2:c.295C>A | XP_011536570.1:p.Arg99Ser | |
| XM_011538269.2:c.292C>A | XP_011536571.1:p.Arg98Ser | |
| XM_024448961.1:c.568C>A | XP_024304729.1:p.Arg190Ser | |
| NM_052845.4:c.568C>A MANE Select | NP_443077.1:p.Arg190Ser | |
| NR_038118.2:n.679C>A |