Revel Score:
ENST00000297268 (MANE Select)
0.962
ENST00000545487
0.962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94408806G>T , CM000669.2:g.94408806G>T | GRCh38 |
| NC_000007.13:g.94038118G>T , CM000669.1:g.94038118G>T | GRCh37 |
| NC_000007.12:g.93876054G>T | NCBI36 |
| NG_007405.1:g.19246G>T , LRG_2:g.19246G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.775G>T MANE Select | ENSP00000297268.6:p.Gly259Cys | |
| ENST00000297268.10:c.775G>T | ENSP00000297268.6:p.Gly259Cys | |
| ENST00000620463.1:c.769G>T | ENSP00000477719.1:p.Gly257Cys | |
| NM_000089.3:c.775G>T , LRG_2t1:c.775G>T | NP_000080.2:p.Gly259Cys | |
| NM_000089.4:c.775G>T MANE Select | NP_000080.2:p.Gly259Cys |