Revel Score:
ENST00000392968
0.762
ENST00000262186 (MANE Select)
0.762
ENST00000430723
0.762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958110C>G , CM000669.2:g.150958110C>G | GRCh38 |
| NC_000007.13:g.150655198C>G , CM000669.1:g.150655198C>G | GRCh37 |
| NC_000007.12:g.150286131C>G | NCBI36 |
| NG_008916.1:g.24817G>C , LRG_288:g.24817G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1698G>C | ||
| ENST00000262186.10:c.865G>C MANE Select | ENSP00000262186.5:p.Glu289Gln | |
| ENST00000262186.9:c.865G>C | ENSP00000262186.5:p.Glu289Gln | |
| ENST00000430723.4:c.517G>C | ENSP00000387657.4:p.Glu173Gln | |
| ENST00000532957.5:n.1088G>C | ||
| NM_000238.3:c.865G>C , LRG_288t1:c.865G>C | NP_000229.1:p.Glu289Gln | |
| NM_172056.2:c.865G>C , LRG_288t2:c.865G>C | NP_742053.1:p.Glu289Gln | |
| XM_011516185.1:c.565G>C | XP_011514487.1:p.Glu189Gln | |
| XM_011516186.1:c.865G>C | XP_011514488.1:p.Glu289Gln | |
| XM_011516185.2:c.565G>C | XP_011514487.1:p.Glu189Gln | |
| XM_011516186.3:c.865G>C | XP_011514488.1:p.Glu289Gln | |
| XM_017012195.1:c.715G>C | XP_016867684.1:p.Glu239Gln | |
| XM_017012196.1:c.688G>C | XP_016867685.1:p.Glu230Gln | |
| NM_000238.4:c.865G>C MANE Select | NP_000229.1:p.Glu289Gln |