Revel Score:
ENST00000297268 (MANE Select)
0.987
ENST00000545487
0.987
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94417797G>T , CM000669.2:g.94417797G>T | GRCh38 |
| NC_000007.13:g.94047109G>T , CM000669.1:g.94047109G>T | GRCh37 |
| NC_000007.12:g.93885045G>T | NCBI36 |
| NG_007405.1:g.28237G>T , LRG_2:g.28237G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.1937G>T MANE Select | ENSP00000297268.6:p.Gly646Val | |
| ENST00000297268.10:c.1937G>T | ENSP00000297268.6:p.Gly646Val | |
| ENST00000461525.5:n.26G>T | ||
| ENST00000473573.5:n.274G>T | ||
| ENST00000497316.5:n.334G>T | ||
| ENST00000620463.1:c.1931G>T | ENSP00000477719.1:p.Gly644Val | |
| NM_000089.3:c.1937G>T , LRG_2t1:c.1937G>T | NP_000080.2:p.Gly646Val | |
| NM_000089.4:c.1937G>T MANE Select | NP_000080.2:p.Gly646Val |