Revel Score:
ENST00000406846 (MANE Select)
0.556
ENST00000346173
0.556
ENST00000304421
0.556
ENST00000541117
0.556
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48963097G>A , CM000664.2:g.48963097G>A | GRCh38 |
| NC_000002.11:g.49190236G>A , CM000664.1:g.49190236G>A | GRCh37 |
| NC_000002.10:g.49043740G>A | NCBI36 |
| NG_008146.1:g.196395C>T , LRG_536:g.196395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406846.7:c.1724C>T MANE Select | ENSP00000384708.2:p.Ala575Val | |
| ENST00000304421.8:c.1646C>T | ENSP00000306780.4:p.Ala549Val | |
| ENST00000406846.6:c.1724C>T | ENSP00000384708.2:p.Ala575Val | |
| NM_000145.3:c.1724C>T , LRG_536t1:c.1724C>T | NP_000136.2:p.Ala575Val | |
| NM_181446.2:c.1646C>T | NP_852111.2:p.Ala549Val | |
| XM_011532733.1:c.1826C>T | XP_011531035.1:p.Ala609Val | |
| XM_011532734.1:c.1493C>T | XP_011531036.1:p.Ala498Val | |
| XM_011532735.1:c.932C>T | XP_011531037.1:p.Ala311Val | |
| XM_011532736.1:c.932C>T | XP_011531038.1:p.Ala311Val | |
| XM_011532737.1:c.956+5601C>T | XP_011531039.1:n.956+5601C>T | |
| XM_011532738.1:c.956+5601C>T | XP_011531040.1:n.956+5601C>T | |
| XM_011532739.1:c.956+5601C>T | XP_011531041.1:n.956+5601C>T | |
| XM_011532733.2:c.1826C>T | XP_011531035.1:p.Ala609Val | |
| XM_011532734.2:c.1493C>T | XP_011531036.1:p.Ala498Val | |
| XM_011532735.2:c.932C>T | XP_011531037.1:p.Ala311Val | |
| XM_011532736.2:c.932C>T | XP_011531038.1:p.Ala311Val | |
| NM_000145.4:c.1724C>T MANE Select | NP_000136.2:p.Ala575Val | |
| NM_181446.3:c.1646C>T | NP_852111.2:p.Ala549Val |