Revel Score:
ENST00000540413
0.046
ENST00000263431 (MANE Select)
0.046
ENST00000542049
0.046
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53906876T>A , CM000681.2:g.53906876T>A | GRCh38 |
| NC_000019.9:g.54410130T>A , CM000681.1:g.54410130T>A | GRCh37 |
| NC_000019.8:g.59101942T>A | NCBI36 |
| NG_009114.1:g.29664T>A , LRG_669:g.29664T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.2075T>A | ENSP00000507230.1:p.Val692Glu | |
| ENST00000682676.1:n.1476T>A | ||
| ENST00000683513.1:c.1967T>A | ENSP00000506809.1:p.Val656Glu | |
| ENST00000263431.4:c.2075T>A MANE Select | ENSP00000263431.3:p.Val692Glu | |
| ENST00000263431.3:c.2075T>A | ENSP00000263431.3:p.Val692Glu | |
| NM_001316329.1:c.2075T>A | NP_001303258.1:p.Val692Glu | |
| NM_002739.3:c.2075T>A , LRG_669t1:c.2075T>A | NP_002730.1:p.Val692Glu | |
| NM_002739.4:c.2075T>A | NP_002730.1:p.Val692Glu | |
| XM_011527108.1:c.1166T>A | XP_011525410.1:p.Val389Glu | |
| NM_002739.5:c.2075T>A MANE Select | NP_002730.1:p.Val692Glu | |
| NM_001316329.2:c.2075T>A | NP_001303258.1:p.Val692Glu |