Revel Score:
ENST00000316623 (MANE Select)
0.914
ENST00000389087
0.914
ENST00000544030
0.914
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48444651T>G , CM000677.2:g.48444651T>G | GRCh38 |
| NC_000015.9:g.48736848T>G , CM000677.1:g.48736848T>G | GRCh37 |
| NC_000015.8:g.46524140T>G | NCBI36 |
| NG_008805.2:g.206138A>C , LRG_778:g.206138A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5927A>C | ENSP00000453958.2:p.Glu1976Ala | |
| ENST00000674301.2:c.5927A>C | ENSP00000501333.2:p.Glu1976Ala | |
| ENST00000684448.1:n.4601A>C | ||
| ENST00000316623.10:c.5927A>C MANE Select | ENSP00000325527.5:p.Glu1976Ala | |
| ENST00000674301.1:c.926A>C | ENSP00000501333.1:p.Glu309Ala | |
| ENST00000316623.9:c.5927A>C | ENSP00000325527.5:p.Glu1976Ala | |
| ENST00000537463.6:c.*1690A>C | ENSP00000440294.2:n.*1690A>C | |
| ENST00000559133.5:c.1234A>C | ||
| ENST00000560820.1:n.47A>C | ||
| NM_000138.4:c.5927A>C , LRG_778t1:c.5927A>C | NP_000129.3:p.Glu1976Ala | |
| NM_000138.5:c.5927A>C MANE Select | NP_000129.3:p.Glu1976Ala |