Revel Score:
ENST00000361727 (MANE Select)
0.574
ENST00000455301
0.574
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147903619G>T , CM000669.2:g.147903619G>T | GRCh38 |
| NC_000007.13:g.147600711G>T , CM000669.1:g.147600711G>T | GRCh37 |
| NC_000007.12:g.147231644G>T | NCBI36 |
| NG_007092.2:g.1792259G>T | |
| NG_007092.3:g.1792619G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2153G>T MANE Select | ENSP00000354778.3:p.Trp718Leu | |
| ENST00000636755.1:n.100G>T | ||
| ENST00000636870.1:n.2015G>T | ||
| ENST00000637825.1:n.1636G>T | ||
| ENST00000361727.7:c.2153G>T | ENSP00000354778.3:p.Trp718Leu | |
| ENST00000455301.2:n.88G>T | ||
| ENST00000627772.2:n.326G>T | ||
| NM_014141.5:c.2153G>T | NP_054860.1:p.Trp718Leu | |
| XM_006715919.1:c.641G>T | XP_006715982.1:p.Trp214Leu | |
| NM_014141.6:c.2153G>T MANE Select | NP_054860.1:p.Trp718Leu |