Revel Score:
ENST00000295694
0.018
ENST00000405535 (MANE Select)
0.018
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156285665G>T , CM000663.2:g.156285665G>T | GRCh38 |
| NC_000001.10:g.156255456G>T , CM000663.1:g.156255456G>T | GRCh37 |
| NC_000001.9:g.154522080G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405535.3:c.439G>T (TMEM79) MANE Select | ENSP00000384748.2:p.Val147Leu | |
| ENST00000295694.9:c.439G>T (TMEM79) | ENSP00000295694.5:p.Val147Leu | |
| ENST00000357501.6:c.41+398G>T (TMEM79) | ENSP00000350100.2:n.41+398G>T | |
| ENST00000405535.2:c.439G>T (TMEM79) | ENSP00000384748.2:p.Val147Leu | |
| ENST00000456810.1:c.41+398G>T (TMEM79) | ENSP00000394736.1:n.41+398G>T | |
| ENST00000463670.5:n.356G>T (TMEM79) | ||
| ENST00000495881.1:n.575G>T (TMEM79) | ||
| NM_032323.2:c.439G>T (TMEM79) | NP_115699.1:p.Val147Leu | |
| NR_026678.1:n.635G>T (TMEM79) | ||
| NM_001323617.1:c.-125+968C>A (SMG5) | NP_001310546.1:n.-125+968C>A | |
| NM_032323.3:c.439G>T (TMEM79) MANE Select | NP_115699.1:p.Val147Leu | |
| NM_001323617.2:c.-125+968C>A (SMG5) | NP_001310546.1:n.-125+968C>A | |
| NR_026678.2:n.616G>T (TMEM79) |