Revel Score:
ENST00000297268 (MANE Select)
0.976
ENST00000545487
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94415263G>T , CM000669.2:g.94415263G>T | GRCh38 |
| NC_000007.13:g.94044575G>T , CM000669.1:g.94044575G>T | GRCh37 |
| NC_000007.12:g.93882511G>T | NCBI36 |
| NG_007405.1:g.25703G>T , LRG_2:g.25703G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.1757G>T MANE Select | ENSP00000297268.6:p.Gly586Val | |
| ENST00000297268.10:c.1757G>T | ENSP00000297268.6:p.Gly586Val | |
| ENST00000473573.5:n.94G>T | ||
| ENST00000488298.5:n.181G>T | ||
| ENST00000620463.1:c.1751G>T | ENSP00000477719.1:p.Gly584Val | |
| NM_000089.3:c.1757G>T , LRG_2t1:c.1757G>T | NP_000080.2:p.Gly586Val | |
| NM_000089.4:c.1757G>T MANE Select | NP_000080.2:p.Gly586Val |