Revel Score:
ENST00000314392 (MANE Select)
0.258
ENST00000373110
0.258
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127937454T>A , CM000671.2:g.127937454T>A | GRCh38 |
| NC_000009.11:g.130699733T>A , CM000671.1:g.130699733T>A | GRCh37 |
| NC_000009.10:g.129739554T>A | NCBI36 |
| NG_032927.1:g.6031A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314392.13:c.73A>T MANE Select | ENSP00000322181.8:p.Thr25Ser | |
| ENST00000314392.12:c.73A>T | ENSP00000322181.8:p.Thr25Ser | |
| ENST00000373110.4:c.73A>T | ENSP00000362202.4:p.Thr25Ser | |
| ENST00000470181.1:n.365A>T | ||
| ENST00000473360.1:n.326A>T | ||
| ENST00000495270.1:n.79A>T | ||
| NM_003863.3:c.73A>T | NP_003854.1:p.Thr25Ser | |
| NM_003863.4:c.73A>T MANE Select | NP_003854.1:p.Thr25Ser | |
| NM_001378436.1:c.73A>T | NP_001365365.1:p.Thr25Ser | |
| NM_001378437.1:c.3+364A>T | NP_001365366.1:n.3+364A>T | |
| NR_165631.1:n.107A>T | ||
| NR_165632.1:n.37+364A>T |