Revel Score:
ENST00000355832 (MANE Select)
0.831
ENST00000374129
0.831
ENST00000542458
0.831
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49474074A>G , CM000672.2:g.49474074A>G | GRCh38 |
| NC_000010.10:g.50682120A>G , CM000672.1:g.50682120A>G | GRCh37 |
| NC_000010.9:g.50352126A>G | NCBI36 |
| NG_009442.1:g.70028T>C , LRG_465:g.70028T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2551T>C MANE Select | ENSP00000348089.5:p.Trp851Arg | |
| ENST00000681632.1:n.2629T>C | ||
| ENST00000681659.1:c.2392T>C | ENSP00000505631.1:p.Trp798Arg | |
| ENST00000355832.9:c.2551T>C | ENSP00000348089.5:p.Trp851Arg | |
| ENST00000623073.3:c.*847T>C | ENSP00000485650.1:n.*847T>C | |
| ENST00000623115.3:c.661T>C | ENSP00000485321.1:p.Trp221Arg | |
| ENST00000624341.3:c.383T>C | ||
| NM_000124.3:c.2551T>C | NP_000115.1:p.Trp851Arg | |
| NM_001346440.1:c.2551T>C | NP_001333369.1:p.Trp851Arg | |
| NM_000124.4:c.2551T>C MANE Select | NP_000115.1:p.Trp851Arg | |
| NM_001346440.2:c.2551T>C | NP_001333369.1:p.Trp851Arg |