ClinVar RCV:
ClinVar Variation:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35545753A>C , CM000681.2:g.35545753A>C | GRCh38 |
| NC_000019.9:g.36036655A>C , CM000681.1:g.36036655A>C | GRCh37 |
| NC_000019.8:g.40728495A>C | NCBI36 |
| NG_046898.1:g.17342A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222284.10:c.14A>C (TMEM147) MANE Select | ENSP00000222284.4:p.His5Pro | |
| ENST00000222284.9:c.14A>C (TMEM147) | ENSP00000222284.4:p.His5Pro | |
| ENST00000392204.6:c.-205A>C (TMEM147) | ENSP00000376040.1:n.-205A>C | |
| ENST00000392205.2:c.14A>C (TMEM147) | ENSP00000376041.1:p.His5Pro | |
| ENST00000477168.6:n.114A>C (TMEM147) | ||
| ENST00000593027.6:c.-88A>C (TMEM147) | ENSP00000466262.1:n.-88A>C | |
| ENST00000595180.5:n.109A>C (TMEM147) | ||
| ENST00000595467.1:n.96A>C (TMEM147) | ||
| ENST00000596232.1:n.102A>C (TMEM147) | ||
| ENST00000599895.1:n.80A>C (TMEM147) | ||
| NM_001242597.1:c.-205A>C (TMEM147) | NP_001229526.1:n.-205A>C | |
| NM_001242598.1:c.14A>C (TMEM147) | NP_001229527.1:p.His5Pro | |
| NM_032635.3:c.14A>C (TMEM147) | NP_116024.1:p.His5Pro | |
| NR_038396.1:n.93+184T>G (TMEM147-AS1) | ||
| NM_032635.4:c.14A>C (TMEM147) MANE Select | NP_116024.1:p.His5Pro | |
| NM_001242597.2:c.-205A>C (TMEM147) | NP_001229526.1:n.-205A>C | |
| NM_001242598.2:c.14A>C (TMEM147) | NP_001229527.1:p.His5Pro |