Revel Score:
ENST00000330883
0.934
ENST00000392968
0.934
ENST00000262186 (MANE Select)
0.934
gnomAD v2:
gnomAD v3:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948981G>A , CM000669.2:g.150948981G>A | GRCh38 |
| NC_000007.13:g.150646069G>A , CM000669.1:g.150646069G>A | GRCh37 |
| NC_000007.12:g.150277002G>A | NCBI36 |
| NG_008916.1:g.33946C>T , LRG_288:g.33946C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3300C>T | ||
| ENST00000262186.10:c.2467C>T MANE Select | ENSP00000262186.5:p.Arg823Trp | |
| ENST00000330883.9:c.1447C>T | ENSP00000328531.4:p.Arg483Trp | |
| ENST00000262186.9:c.2467C>T | ENSP00000262186.5:p.Arg823Trp | |
| ENST00000330883.8:c.1447C>T | ENSP00000328531.4:p.Arg483Trp | |
| NM_000238.3:c.2467C>T , LRG_288t1:c.2467C>T | NP_000229.1:p.Arg823Trp | |
| NM_172057.2:c.1447C>T , LRG_288t3:c.1447C>T | NP_742054.1:p.Arg483Trp | |
| XM_011516185.1:c.2167C>T | XP_011514487.1:p.Arg723Trp | |
| XM_011516186.1:c.2467C>T | XP_011514488.1:p.Arg823Trp | |
| XM_011516185.2:c.2167C>T | XP_011514487.1:p.Arg723Trp | |
| XM_011516186.3:c.2467C>T | XP_011514488.1:p.Arg823Trp | |
| XM_017012195.1:c.2317C>T | XP_016867684.1:p.Arg773Trp | |
| XM_017012196.1:c.2290C>T | XP_016867685.1:p.Arg764Trp | |
| NM_000238.4:c.2467C>T MANE Select | NP_000229.1:p.Arg823Trp | |
| NM_172057.3:c.1447C>T | NP_742054.1:p.Arg483Trp |