Revel Score:
ENST00000374479 (MANE Select)
0.803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23865582A>T , CM000663.2:g.23865582A>T | GRCh38 |
| NC_000001.10:g.24192072A>T , CM000663.1:g.24192072A>T | GRCh37 |
| NC_000001.9:g.24064659A>T | NCBI36 |
| NG_013346.1:g.7788T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.433T>A MANE Select | ENSP00000363603.3:p.Trp145Arg | |
| ENST00000374479.3:c.433T>A | ENSP00000363603.3:p.Trp145Arg | |
| NM_000147.4:c.433T>A | NP_000138.2:p.Trp145Arg | |
| XM_005245821.1:c.58T>A | XP_005245878.1:p.Trp20Arg | |
| XM_011541167.1:c.-201T>A | XP_011539469.1:n.-201T>A | |
| XM_005245821.3:c.58T>A | XP_005245878.1:p.Trp20Arg | |
| XM_011541167.3:c.-201T>A | XP_011539469.1:n.-201T>A | |
| XM_017000905.2:c.130T>A | XP_016856394.1:p.Trp44Arg | |
| NM_000147.5:c.433T>A MANE Select | NP_000138.2:p.Trp145Arg | |
| NR_174379.1:n.611T>A | ||
| NR_174380.1:n.660T>A | ||
| NR_174381.1:n.499T>A | ||
| NR_174382.1:n.896T>A |