Revel Score:
ENST00000545712 (MANE Select)
0.193
ENST00000266839
0.193
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557065A>C , CM000674.2:g.109557065A>C | GRCh38 |
| NC_000012.11:g.109994870A>C , CM000674.1:g.109994870A>C | GRCh37 |
| NC_000012.10:g.108479253A>C | NCBI36 |
| NG_007096.1:g.21433T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.716T>G MANE Select | ENSP00000445920.1:p.Met239Arg | |
| ENST00000537496.5:c.*281T>G | ENSP00000444793.1:n.*281T>G | |
| ENST00000540016.5:c.560T>G | ENSP00000474582.1:p.Met187Arg | |
| ENST00000541763.6:c.941T>G | ENSP00000474981.1:n.941T>G | |
| ENST00000544051.5:c.*597T>G | ENSP00000438079.1:n.*597T>G | |
| ENST00000545712.6:c.716T>G | ENSP00000445920.1:p.Met239Arg | |
| NM_052845.3:c.716T>G | NP_443077.1:p.Met239Arg | |
| NR_038118.1:n.876T>G | ||
| XM_011538266.1:c.*63T>G | XP_011536568.1:n.*63T>G | |
| XM_011538267.1:c.*63T>G | XP_011536569.1:n.*63T>G | |
| XM_011538268.1:c.443T>G | XP_011536570.1:p.Met148Arg | |
| XM_011538269.1:c.440T>G | XP_011536571.1:p.Met147Arg | |
| XM_011538267.3:c.*63T>G | XP_011536569.1:n.*63T>G | |
| XM_011538268.2:c.443T>G | XP_011536570.1:p.Met148Arg | |
| XM_011538269.2:c.440T>G | XP_011536571.1:p.Met147Arg | |
| NM_052845.4:c.716T>G MANE Select | NP_443077.1:p.Met239Arg | |
| NR_038118.2:n.827T>G |