Revel Score:
ENST00000311895 (MANE Select)
0.538
ENST00000389138
0.538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948046A>T , CM000678.2:g.13948046A>T | GRCh38 |
| NC_000016.9:g.14041903A>T , CM000678.1:g.14041903A>T | GRCh37 |
| NC_000016.8:g.13949404A>T | NCBI36 |
| NG_011442.1:g.32890A>T , LRG_463:g.32890A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2588A>T | ENSP00000507912.1:p.Lys863Ile | |
| ENST00000683962.1:c.*2144A>T | ENSP00000506854.1:n.*2144A>T | |
| ENST00000311895.8:c.2450A>T MANE Select | ENSP00000310520.7:p.Lys817Ile | |
| ENST00000311895.7:c.2450A>T | ENSP00000310520.7:p.Lys817Ile | |
| ENST00000389138.7:n.1727A>T | ||
| NM_005236.2:c.2450A>T , LRG_463t1:c.2450A>T | NP_005227.1:p.Lys817Ile | |
| XM_011522424.1:c.2588A>T | XP_011520726.1:p.Lys863Ile | |
| XM_011522425.1:c.1907A>T | XP_011520727.1:p.Lys636Ile | |
| XM_011522426.1:c.1661A>T | XP_011520728.1:p.Lys554Ile | |
| XM_011522427.1:c.1100A>T | XP_011520729.1:p.Lys367Ile | |
| XR_932805.1:n.2609A>T | ||
| XM_011522424.3:c.2588A>T | XP_011520726.1:p.Lys863Ile | |
| XM_017023043.2:c.1661A>T | XP_016878532.1:p.Lys554Ile | |
| NM_005236.3:c.2450A>T MANE Select | NP_005227.1:p.Lys817Ile |