Revel Score:
ENST00000545712 (MANE Select)
0.972
ENST00000266839
0.972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561055C>G , CM000674.2:g.109561055C>G | GRCh38 |
| NC_000012.11:g.109998860C>G , CM000674.1:g.109998860C>G | GRCh37 |
| NC_000012.10:g.108483243C>G | NCBI36 |
| NG_007096.1:g.17443G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.569G>C MANE Select | ENSP00000445920.1:p.Arg190Pro | |
| ENST00000537496.5:c.*134G>C | ENSP00000444793.1:n.*134G>C | |
| ENST00000540016.5:c.413G>C | ENSP00000474582.1:p.Arg138Pro | |
| ENST00000541763.6:c.794G>C | ENSP00000474981.1:n.794G>C | |
| ENST00000544051.5:c.*450G>C | ENSP00000438079.1:n.*450G>C | |
| ENST00000545712.6:c.569G>C | ENSP00000445920.1:p.Arg190Pro | |
| NM_052845.3:c.569G>C | NP_443077.1:p.Arg190Pro | |
| NR_038118.1:n.729G>C | ||
| XM_011538266.1:c.414G>C | XP_011536568.1:p.Pro138= | |
| XM_011538267.1:c.414G>C | XP_011536569.1:p.Pro138= | |
| XM_011538268.1:c.296G>C | XP_011536570.1:p.Arg99Pro | |
| XM_011538269.1:c.293G>C | XP_011536571.1:p.Arg98Pro | |
| XM_011538267.3:c.414G>C | XP_011536569.1:p.Pro138= | |
| XM_011538268.2:c.296G>C | XP_011536570.1:p.Arg99Pro | |
| XM_011538269.2:c.293G>C | XP_011536571.1:p.Arg98Pro | |
| XM_024448961.1:c.569G>C | XP_024304729.1:p.Arg190Pro | |
| NM_052845.4:c.569G>C MANE Select | NP_443077.1:p.Arg190Pro | |
| NR_038118.2:n.680G>C |