Revel Score:
ENST00000300056 (MANE Select)
0.149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89683648T>A , CM000677.2:g.89683648T>A | GRCh38 |
| NC_000015.9:g.90226879T>A , CM000677.1:g.90226879T>A | GRCh37 |
| NC_000015.8:g.88027883T>A | NCBI36 |
| NG_029172.1:g.770A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300056.8:c.473A>T MANE Select | ENSP00000300056.3:p.Lys158Ile | |
| ENST00000300056.7:c.473A>T | ENSP00000300056.3:p.Lys158Ile | |
| ENST00000557982.1:n.207-2108A>T | ||
| ENST00000559170.1:c.*258A>T | ENSP00000453878.1:n.*258A>T | |
| ENST00000561224.5:c.173-2108A>T | ENSP00000453552.1:n.173-2108A>T | |
| ENST00000561257.1:c.380A>T | ENSP00000453492.1:p.Lys127Ile | |
| NM_001271572.1:c.380A>T | NP_001258501.1:p.Lys127Ile | |
| NM_001271573.1:c.38A>T | NP_001258502.1:p.Lys13Ile | |
| NM_003847.2:c.473A>T | NP_003838.1:p.Lys158Ile | |
| NM_003847.3:c.473A>T MANE Select | NP_003838.1:p.Lys158Ile | |
| NM_001271572.2:c.380A>T | NP_001258501.1:p.Lys127Ile | |
| NM_001271573.2:c.38A>T | NP_001258502.1:p.Lys13Ile |