Revel Score:
ENST00000329125 (MANE Select)
0.419
ENST00000438881
0.419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933350G>T , CM000679.2:g.4933350G>T | GRCh38 |
| NC_000017.10:g.4836645G>T , CM000679.1:g.4836645G>T | GRCh37 |
| NC_000017.9:g.4777425G>T | NCBI36 |
| NG_008767.2:g.6056G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.746G>T (GP1BA) MANE Select | ENSP00000329380.5:p.Gly249Val | |
| ENST00000649830.1:c.-888+992C>A (CHRNE) | ENSP00000496907.1:n.-888+992C>A | |
| ENST00000329125.5:c.746G>T (GP1BA) | ENSP00000329380.5:p.Gly249Val | |
| ENST00000611961.1:c.746G>T (GP1BA) | ENSP00000484439.1:p.Gly249Val | |
| NM_000173.6:c.746G>T (GP1BA) | NP_000164.5:p.Gly249Val | |
| NM_000173.7:c.746G>T (GP1BA) MANE Select | NP_000164.5:p.Gly249Val |