Revel Score:
ENST00000297268 (MANE Select)
0.978
ENST00000545487
0.978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94427288G>T , CM000669.2:g.94427288G>T | GRCh38 |
| NC_000007.13:g.94056600G>T , CM000669.1:g.94056600G>T | GRCh37 |
| NC_000007.12:g.93894536G>T | NCBI36 |
| NG_007405.1:g.37728G>T , LRG_2:g.37728G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3260G>T MANE Select | ENSP00000297268.6:p.Gly1087Val | |
| ENST00000297268.10:c.3260G>T | ENSP00000297268.6:p.Gly1087Val | |
| ENST00000481570.5:n.3710G>T | ||
| ENST00000488121.1:n.176G>T | ||
| ENST00000492110.1:n.380G>T | ||
| ENST00000620463.1:c.3254G>T | ENSP00000477719.1:p.Gly1085Val | |
| NM_000089.3:c.3260G>T , LRG_2t1:c.3260G>T | NP_000080.2:p.Gly1087Val | |
| NM_000089.4:c.3260G>T MANE Select | NP_000080.2:p.Gly1087Val |