Revel Score:
ENST00000268124 (MANE Select)
0.323
ENST00000442287
0.323
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89326736G>A , CM000677.2:g.89326736G>A | GRCh38 |
| NC_000015.9:g.89869967G>A , CM000677.1:g.89869967G>A | GRCh37 |
| NC_000015.8:g.87670971G>A | NCBI36 |
| NG_008218.1:g.13060C>T | |
| NG_008218.2:g.13060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1588C>T | ENSP00000516154.1:p.Leu530Phe | |
| ENST00000268124.11:c.1588C>T MANE Select | ENSP00000268124.5:p.Leu530Phe | |
| ENST00000530292.3:c.1189C>T | ENSP00000432885.2:p.Leu397Phe | |
| ENST00000635986.2:c.1588C>T | ENSP00000490653.2:p.Leu530Phe | |
| ENST00000636774.1:c.*155C>T | ENSP00000489799.1:n.*155C>T | |
| ENST00000637238.1:c.325C>T | ENSP00000490756.1:p.Leu109Phe | |
| ENST00000637264.1:c.660C>T | ||
| ENST00000666746.1:c.1165C>T | ||
| ENST00000672071.1:n.1786C>T | ||
| ENST00000672923.2:n.1691C>T | ||
| ENST00000268124.9:c.1588C>T | ENSP00000268124.5:p.Leu530Phe | |
| ENST00000442287.6:c.1588C>T | ENSP00000399851.2:p.Leu530Phe | |
| ENST00000631044.2:c.*971C>T | ENSP00000486730.1:n.*971C>T | |
| NM_001126131.1:c.1588C>T | NP_001119603.1:p.Leu530Phe | |
| NM_002693.2:c.1588C>T | NP_002684.1:p.Leu530Phe | |
| NM_001126131.2:c.1588C>T | NP_001119603.1:p.Leu530Phe | |
| NM_002693.3:c.1588C>T MANE Select | NP_002684.1:p.Leu530Phe |