Revel Score:
ENST00000155840 (MANE Select)
0.966
ENST00000335475
0.966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583472C>A , CM000673.2:g.2583472C>A | GRCh38 |
| NC_000011.9:g.2604702C>A , CM000673.1:g.2604702C>A | GRCh37 |
| NC_000011.8:g.2561278C>A | NCBI36 |
| NG_008935.1:g.143482C>A , LRG_287:g.143482C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.698C>A | ENSP00000434560.2:p.Pro233His | |
| ENST00000646564.2:c.515C>A | ENSP00000495806.2:p.Pro172His | |
| ENST00000155840.12:c.959C>A MANE Select | ENSP00000155840.2:p.Pro320His | |
| ENST00000335475.6:c.578C>A | ENSP00000334497.5:p.Pro193His | |
| ENST00000646564.1:c.161C>A | ENSP00000495806.1:p.Pro54His | |
| ENST00000155840.9:c.959C>A | ENSP00000155840.2:p.Pro320His | |
| ENST00000335475.5:c.578C>A | ENSP00000334497.5:p.Pro193His | |
| NM_000218.2:c.959C>A , LRG_287t1:c.959C>A | NP_000209.2:p.Pro320His | |
| NM_181798.1:c.578C>A , LRG_287t2:c.578C>A | NP_861463.1:p.Pro193His | |
| NM_000218.3:c.959C>A MANE Select | NP_000209.2:p.Pro320His |