Revel Score:
ENST00000349716
0.914
ENST00000310346
0.914
ENST00000448888
0.914
ENST00000405440 (MANE Select)
0.914
ENST00000526441
0.914
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114385522G>A , CM000674.2:g.114385522G>A | GRCh38 |
| NC_000012.11:g.114823327G>A , CM000674.1:g.114823327G>A | GRCh37 |
| NC_000012.10:g.113307710G>A | NCBI36 |
| NG_007373.1:g.27921C>T , LRG_670:g.27921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.709C>T MANE Select | ENSP00000384152.3:p.Arg237Trp | |
| ENST00000310346.8:c.709C>T | ENSP00000309913.4:p.Arg237Trp | |
| ENST00000349716.9:c.559C>T | ENSP00000337723.5:p.Arg187Trp | |
| ENST00000405440.6:c.709C>T | ENSP00000384152.2:p.Arg237Trp | |
| ENST00000526441.1:c.709C>T | ENSP00000433292.1:p.Arg237Trp | |
| NM_000192.3:c.709C>T , LRG_670t1:c.709C>T | NP_000183.2:p.Arg237Trp | |
| NM_080717.2:c.559C>T | NP_542448.1:p.Arg187Trp | |
| NM_181486.2:c.709C>T | NP_852259.1:p.Arg237Trp | |
| XM_017019912.1:c.757C>T | XP_016875401.1:p.Arg253Trp | |
| NM_080717.3:c.559C>T | NP_542448.1:p.Arg187Trp | |
| NM_181486.4:c.709C>T MANE Select | NP_852259.1:p.Arg237Trp | |
| NM_080717.4:c.559C>T | NP_542448.1:p.Arg187Trp |