Revel Score:
ENST00000426333 (MANE Select)
0.862
ENST00000262414
0.862
ENST00000402521
0.862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44876019G>A , CM000679.2:g.44876019G>A | GRCh38 |
| NC_000017.10:g.42953387G>A , CM000679.1:g.42953387G>A | GRCh37 |
| NC_000017.9:g.40308913G>A | NCBI36 |
| NG_032674.1:g.28607C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426333.7:c.784C>T MANE Select | ENSP00000392094.1:p.Arg262Trp | |
| ENST00000402521.7:c.679C>T | ENSP00000385873.2:p.Arg227Trp | |
| ENST00000426333.6:c.784C>T | ENSP00000392094.1:p.Arg262Trp | |
| ENST00000587957.1:n.117C>T | ||
| ENST00000591382.5:c.784C>T | ENSP00000467805.1:p.Arg262Trp | |
| ENST00000592576.5:c.754C>T | ENSP00000465058.1:p.Arg252Trp | |
| ENST00000593200.5:n.405C>T | ||
| NM_001142605.1:c.679C>T | NP_001136077.1:p.Arg227Trp | |
| NM_001258353.1:c.784C>T | NP_001245282.1:p.Arg262Trp | |
| NM_001258354.1:c.754C>T | NP_001245283.1:p.Arg252Trp | |
| NM_004247.3:c.784C>T | NP_004238.3:p.Arg262Trp | |
| XR_934602.1:n.869C>T | ||
| XR_934602.3:n.865C>T | ||
| NM_004247.4:c.784C>T MANE Select | NP_004238.3:p.Arg262Trp | |
| NM_001142605.2:c.679C>T | NP_001136077.1:p.Arg227Trp | |
| NM_001258353.2:c.784C>T | NP_001245282.1:p.Arg262Trp | |
| NM_001258354.2:c.754C>T | NP_001245283.1:p.Arg252Trp |