Revel Score:
ENST00000367021 (MANE Select)
0.938
ENST00000542854
0.938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209790644A>G , CM000663.2:g.209790644A>G | GRCh38 |
| NC_000001.10:g.209963989A>G , CM000663.1:g.209963989A>G | GRCh37 |
| NC_000001.9:g.208030612A>G | NCBI36 |
| NG_007081.2:g.20491T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.911T>C | ENSP00000512426.1:p.Leu304Pro | |
| ENST00000696134.1:c.*338T>C | ENSP00000512427.1:n.*338T>C | |
| ENST00000367021.8:c.911T>C MANE Select | ENSP00000355988.3:p.Leu304Pro | |
| ENST00000643798.1:c.*421T>C | ENSP00000496669.1:n.*421T>C | |
| ENST00000367021.7:c.911T>C | ENSP00000355988.3:p.Leu304Pro | |
| ENST00000542854.5:c.626T>C | ENSP00000440532.1:p.Leu209Pro | |
| NM_001206696.1:c.626T>C | NP_001193625.1:p.Leu209Pro | |
| NM_006147.3:c.911T>C | NP_006138.1:p.Leu304Pro | |
| NM_006147.4:c.911T>C MANE Select | NP_006138.1:p.Leu304Pro | |
| NM_001206696.2:c.626T>C | NP_001193625.1:p.Leu209Pro |