Revel Score:
ENST00000330883
0.738
ENST00000392968
0.738
ENST00000262186 (MANE Select)
0.738
ENST00000350328
0.738
ENST00000430723
0.738
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951592C>A , CM000669.2:g.150951592C>A | GRCh38 |
| NC_000007.13:g.150648680C>A , CM000669.1:g.150648680C>A | GRCh37 |
| NC_000007.12:g.150279613C>A | NCBI36 |
| NG_008916.1:g.31335G>T , LRG_288:g.31335G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1099G>T | ||
| ENST00000684241.1:n.2634G>T | ||
| ENST00000262186.10:c.1801G>T MANE Select | ENSP00000262186.5:p.Gly601Cys | |
| ENST00000330883.9:c.781G>T | ENSP00000328531.4:p.Gly261Cys | |
| ENST00000262186.9:c.1801G>T | ENSP00000262186.5:p.Gly601Cys | |
| ENST00000330883.8:c.781G>T | ENSP00000328531.4:p.Gly261Cys | |
| ENST00000430723.4:c.1453G>T | ENSP00000387657.4:p.Gly485Cys | |
| ENST00000461280.1:n.1088G>T | ||
| ENST00000473610.5:n.1106G>T | ||
| ENST00000532957.5:n.2024G>T | ||
| NM_000238.3:c.1801G>T , LRG_288t1:c.1801G>T | NP_000229.1:p.Gly601Cys | |
| NM_001204798.1:c.781G>T | NP_001191727.1:p.Gly261Cys | |
| NM_172056.2:c.1801G>T , LRG_288t2:c.1801G>T | NP_742053.1:p.Gly601Cys | |
| NM_172057.2:c.781G>T , LRG_288t3:c.781G>T | NP_742054.1:p.Gly261Cys | |
| XM_011516185.1:c.1501G>T | XP_011514487.1:p.Gly501Cys | |
| XM_011516186.1:c.1801G>T | XP_011514488.1:p.Gly601Cys | |
| XM_011516185.2:c.1501G>T | XP_011514487.1:p.Gly501Cys | |
| XM_011516186.3:c.1801G>T | XP_011514488.1:p.Gly601Cys | |
| XM_017012195.1:c.1651G>T | XP_016867684.1:p.Gly551Cys | |
| XM_017012196.1:c.1624G>T | XP_016867685.1:p.Gly542Cys | |
| NM_000238.4:c.1801G>T MANE Select | NP_000229.1:p.Gly601Cys | |
| NM_001204798.2:c.781G>T | NP_001191727.1:p.Gly261Cys | |
| NM_172057.3:c.781G>T | NP_742054.1:p.Gly261Cys |