Revel Score:
ENST00000330883
0.934
ENST00000392968
0.934
ENST00000262186 (MANE Select)
0.934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948939C>G , CM000669.2:g.150948939C>G | GRCh38 |
| NC_000007.13:g.150646027C>G , CM000669.1:g.150646027C>G | GRCh37 |
| NC_000007.12:g.150276960C>G | NCBI36 |
| NG_008916.1:g.33988G>C , LRG_288:g.33988G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3342G>C | ||
| ENST00000262186.10:c.2509G>C MANE Select | ENSP00000262186.5:p.Asp837His | |
| ENST00000330883.9:c.1489G>C | ENSP00000328531.4:p.Asp497His | |
| ENST00000262186.9:c.2509G>C | ENSP00000262186.5:p.Asp837His | |
| ENST00000330883.8:c.1489G>C | ENSP00000328531.4:p.Asp497His | |
| NM_000238.3:c.2509G>C , LRG_288t1:c.2509G>C | NP_000229.1:p.Asp837His | |
| NM_172057.2:c.1489G>C , LRG_288t3:c.1489G>C | NP_742054.1:p.Asp497His | |
| XM_011516185.1:c.2209G>C | XP_011514487.1:p.Asp737His | |
| XM_011516186.1:c.2509G>C | XP_011514488.1:p.Asp837His | |
| XM_011516185.2:c.2209G>C | XP_011514487.1:p.Asp737His | |
| XM_011516186.3:c.2509G>C | XP_011514488.1:p.Asp837His | |
| XM_017012195.1:c.2359G>C | XP_016867684.1:p.Asp787His | |
| XM_017012196.1:c.2332G>C | XP_016867685.1:p.Asp778His | |
| NM_000238.4:c.2509G>C MANE Select | NP_000229.1:p.Asp837His | |
| NM_172057.3:c.1489G>C | NP_742054.1:p.Asp497His |