Revel Score:
ENST00000228606 (MANE Select)
0.904
ENST00000546567
0.904
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764174A>T , CM000674.2:g.57764174A>T | GRCh38 |
| NC_000012.11:g.58157957A>T , CM000674.1:g.58157957A>T | GRCh37 |
| NC_000012.10:g.56444224A>T | NCBI36 |
| NG_007076.1:g.8020T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1220T>A | ENSP00000518840.1:p.Leu407Gln | |
| ENST00000713545.1:c.*144T>A | ENSP00000518841.1:n.*144T>A | |
| ENST00000228606.9:c.1139T>A MANE Select | ENSP00000228606.4:p.Leu380Gln | |
| ENST00000228606.8:c.1139T>A | ENSP00000228606.4:p.Leu380Gln | |
| ENST00000546567.5:c.434T>A | ENSP00000449472.1:p.Leu145Gln | |
| ENST00000547344.5:n.1278T>A | ||
| NM_000785.3:c.1139T>A | NP_000776.1:p.Leu380Gln | |
| NM_000785.4:c.1139T>A MANE Select | NP_000776.1:p.Leu380Gln |