Revel Score:
ENST00000311895 (MANE Select)
0.188
ENST00000389138
0.188
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948143A>T , CM000678.2:g.13948143A>T | GRCh38 |
| NC_000016.9:g.14042000A>T , CM000678.1:g.14042000A>T | GRCh37 |
| NC_000016.8:g.13949501A>T | NCBI36 |
| NG_011442.1:g.32987A>T , LRG_463:g.32987A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2685A>T | ENSP00000507912.1:p.Gln895His | |
| ENST00000683962.1:c.*2241A>T | ENSP00000506854.1:n.*2241A>T | |
| ENST00000311895.8:c.2547A>T MANE Select | ENSP00000310520.7:p.Gln849His | |
| ENST00000311895.7:c.2547A>T | ENSP00000310520.7:p.Gln849His | |
| ENST00000389138.7:n.1824A>T | ||
| NM_005236.2:c.2547A>T , LRG_463t1:c.2547A>T | NP_005227.1:p.Gln849His | |
| XM_011522424.1:c.2685A>T | XP_011520726.1:p.Gln895His | |
| XM_011522425.1:c.2004A>T | XP_011520727.1:p.Gln668His | |
| XM_011522426.1:c.1758A>T | XP_011520728.1:p.Gln586His | |
| XM_011522427.1:c.1197A>T | XP_011520729.1:p.Gln399His | |
| XR_932805.1:n.2706A>T | ||
| XM_011522424.3:c.2685A>T | XP_011520726.1:p.Gln895His | |
| XM_017023043.2:c.1758A>T | XP_016878532.1:p.Gln586His | |
| NM_005236.3:c.2547A>T MANE Select | NP_005227.1:p.Gln849His |