Revel Score:
ENST00000406846 (MANE Select)
0.844
ENST00000346173
0.844
ENST00000304421
0.844
ENST00000541117
0.844
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48963020G>C , CM000664.2:g.48963020G>C | GRCh38 |
| NC_000002.11:g.49190159G>C , CM000664.1:g.49190159G>C | GRCh37 |
| NC_000002.10:g.49043663G>C | NCBI36 |
| NG_008146.1:g.196472C>G , LRG_536:g.196472C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406846.7:c.1801C>G MANE Select | ENSP00000384708.2:p.Leu601Val | |
| ENST00000304421.8:c.1723C>G | ENSP00000306780.4:p.Leu575Val | |
| ENST00000406846.6:c.1801C>G | ENSP00000384708.2:p.Leu601Val | |
| NM_000145.3:c.1801C>G , LRG_536t1:c.1801C>G | NP_000136.2:p.Leu601Val | |
| NM_181446.2:c.1723C>G | NP_852111.2:p.Leu575Val | |
| XM_011532733.1:c.1903C>G | XP_011531035.1:p.Leu635Val | |
| XM_011532734.1:c.1570C>G | XP_011531036.1:p.Leu524Val | |
| XM_011532735.1:c.1009C>G | XP_011531037.1:p.Leu337Val | |
| XM_011532736.1:c.1009C>G | XP_011531038.1:p.Leu337Val | |
| XM_011532737.1:c.956+5678C>G | XP_011531039.1:n.956+5678C>G | |
| XM_011532738.1:c.956+5678C>G | XP_011531040.1:n.956+5678C>G | |
| XM_011532739.1:c.956+5678C>G | XP_011531041.1:n.956+5678C>G | |
| XM_011532733.2:c.1903C>G | XP_011531035.1:p.Leu635Val | |
| XM_011532734.2:c.1570C>G | XP_011531036.1:p.Leu524Val | |
| XM_011532735.2:c.1009C>G | XP_011531037.1:p.Leu337Val | |
| XM_011532736.2:c.1009C>G | XP_011531038.1:p.Leu337Val | |
| NM_000145.4:c.1801C>G MANE Select | NP_000136.2:p.Leu601Val | |
| NM_181446.3:c.1723C>G | NP_852111.2:p.Leu575Val |