Revel Score:
ENST00000355832 (MANE Select)
0.934
ENST00000374129
0.934
ENST00000542458
0.934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49471085A>C , CM000672.2:g.49471085A>C | GRCh38 |
| NC_000010.10:g.50679131A>C , CM000672.1:g.50679131A>C | GRCh37 |
| NC_000010.9:g.50349137A>C | NCBI36 |
| NG_009442.1:g.73017T>G , LRG_465:g.73017T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2960T>G MANE Select | ENSP00000348089.5:p.Leu987Arg | |
| ENST00000679552.1:n.142-196T>G | ||
| ENST00000679871.1:n.106T>G | ||
| ENST00000679974.1:n.120-196T>G | ||
| ENST00000681632.1:n.4363T>G | ||
| ENST00000681659.1:c.2801T>G | ENSP00000505631.1:p.Leu934Arg | |
| ENST00000355832.9:c.2960T>G | ENSP00000348089.5:p.Leu987Arg | |
| ENST00000623073.3:c.*1256T>G | ENSP00000485650.1:n.*1256T>G | |
| ENST00000623115.3:c.1070T>G | ENSP00000485321.1:p.Leu357Arg | |
| ENST00000624341.3:c.792T>G | ||
| NM_000124.3:c.2960T>G | NP_000115.1:p.Leu987Arg | |
| XR_945953.1:n.243-480A>C | ||
| NM_001346440.1:c.2960T>G | NP_001333369.1:p.Leu987Arg | |
| NM_000124.4:c.2960T>G MANE Select | NP_000115.1:p.Leu987Arg | |
| NM_001346440.2:c.2960T>G | NP_001333369.1:p.Leu987Arg |