Revel Score:
ENST00000316623 (MANE Select)
0.984
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427603A>G , CM000677.2:g.48427603A>G | GRCh38 |
| NC_000015.9:g.48719800A>G , CM000677.1:g.48719800A>G | GRCh37 |
| NC_000015.8:g.46507092A>G | NCBI36 |
| NG_008805.2:g.223186T>C , LRG_778:g.223186T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.7230T>C | ENSP00000453958.2:p.Ser2410= | |
| ENST00000674301.2:c.*681T>C | ENSP00000501333.2:n.*681T>C | |
| ENST00000682170.1:n.1349T>C | ||
| ENST00000682767.1:n.465T>C | ||
| ENST00000316623.10:c.7168T>C MANE Select | ENSP00000325527.5:p.Cys2390Arg | |
| ENST00000674301.1:c.2334T>C | ENSP00000501333.1:n.2334T>C | |
| ENST00000316623.9:c.7168T>C | ENSP00000325527.5:p.Cys2390Arg | |
| ENST00000559133.5:c.2537T>C | ||
| NM_000138.4:c.7168T>C , LRG_778t1:c.7168T>C | NP_000129.3:p.Cys2390Arg | |
| NM_000138.5:c.7168T>C MANE Select | NP_000129.3:p.Cys2390Arg |