Revel Score:
ENST00000316623 (MANE Select)
0.905
ENST00000389087
0.905
ENST00000544030
0.905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437809C>T , CM000677.2:g.48437809C>T | GRCh38 |
| NC_000015.9:g.48730006C>T , CM000677.1:g.48730006C>T | GRCh37 |
| NC_000015.8:g.46517298C>T | NCBI36 |
| NG_008805.2:g.212980G>A , LRG_778:g.212980G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6272G>A | ENSP00000453958.2:p.Gly2091Asp | |
| ENST00000674301.2:c.6272G>A | ENSP00000501333.2:p.Gly2091Asp | |
| ENST00000316623.10:c.6272G>A MANE Select | ENSP00000325527.5:p.Gly2091Asp | |
| ENST00000674301.1:c.1271G>A | ENSP00000501333.1:p.Gly424Asp | |
| ENST00000316623.9:c.6272G>A | ENSP00000325527.5:p.Gly2091Asp | |
| ENST00000537463.6:c.*2035G>A | ENSP00000440294.2:n.*2035G>A | |
| ENST00000559133.5:c.1579G>A | ||
| ENST00000560820.1:n.392G>A | ||
| NM_000138.4:c.6272G>A , LRG_778t1:c.6272G>A | NP_000129.3:p.Gly2091Asp | |
| NM_000138.5:c.6272G>A MANE Select | NP_000129.3:p.Gly2091Asp |