Revel Score:
ENST00000355832 (MANE Select)
0.827
ENST00000374129
0.827
ENST00000542458
0.827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49482689G>T , CM000672.2:g.49482689G>T | GRCh38 |
| NC_000010.10:g.50690735G>T , CM000672.1:g.50690735G>T | GRCh37 |
| NC_000010.9:g.50360741G>T | NCBI36 |
| NG_009442.1:g.61413C>A , LRG_465:g.61413C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2167C>A MANE Select | ENSP00000348089.5:p.Gln723Lys | |
| ENST00000681632.1:n.2245C>A | ||
| ENST00000681659.1:c.2008C>A | ENSP00000505631.1:p.Gln670Lys | |
| ENST00000355832.9:c.2167C>A | ENSP00000348089.5:p.Gln723Lys | |
| ENST00000623073.3:c.*559C>A | ENSP00000485650.1:n.*559C>A | |
| ENST00000623115.3:c.277C>A | ENSP00000485321.1:p.Gln93Lys | |
| NM_000124.3:c.2167C>A | NP_000115.1:p.Gln723Lys | |
| NM_001346440.1:c.2167C>A | NP_001333369.1:p.Gln723Lys | |
| NM_000124.4:c.2167C>A MANE Select | NP_000115.1:p.Gln723Lys | |
| NM_001346440.2:c.2167C>A | NP_001333369.1:p.Gln723Lys |