Revel Score:
ENST00000297268 (MANE Select)
0.965
ENST00000545487
0.965
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94418518G>A , CM000669.2:g.94418518G>A | GRCh38 |
| NC_000007.13:g.94047830G>A , CM000669.1:g.94047830G>A | GRCh37 |
| NC_000007.12:g.93885766G>A | NCBI36 |
| NG_007405.1:g.28958G>A , LRG_2:g.28958G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.1991G>A MANE Select | ENSP00000297268.6:p.Gly664Asp | |
| ENST00000297268.10:c.1991G>A | ENSP00000297268.6:p.Gly664Asp | |
| ENST00000461525.5:n.80G>A | ||
| ENST00000473573.5:n.328G>A | ||
| ENST00000497316.5:n.388G>A | ||
| ENST00000620463.1:c.1985G>A | ENSP00000477719.1:p.Gly662Asp | |
| NM_000089.3:c.1991G>A , LRG_2t1:c.1991G>A | NP_000080.2:p.Gly664Asp | |
| NM_000089.4:c.1991G>A MANE Select | NP_000080.2:p.Gly664Asp |