Revel Score:
ENST00000342988 (MANE Select)
0.873
ENST00000398417
0.873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078303T>G , CM000680.2:g.51078303T>G | GRCh38 |
| NC_000018.9:g.48604673T>G , CM000680.1:g.48604673T>G | GRCh37 |
| NC_000018.8:g.46858671T>G | NCBI36 |
| NG_013013.2:g.115264T>G , LRG_318:g.115264T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1495T>G | ENSP00000465878.2:p.Cys499Gly | |
| ENST00000589076.6:c.1495T>G | ENSP00000466934.2:p.Cys499Gly | |
| ENST00000589941.2:c.1495T>G | ENSP00000465874.2:p.Cys499Gly | |
| ENST00000590061.2:c.1495T>G | ENSP00000464772.2:p.Cys499Gly | |
| ENST00000593223.2:c.*1492T>G | ENSP00000466118.2:n.*1492T>G | |
| ENST00000611848.2:c.*147T>G | ENSP00000478613.2:n.*147T>G | |
| ENST00000684953.1:n.3510T>G | ||
| ENST00000685090.1:n.3425T>G | ||
| ENST00000685232.1:n.1716T>G | ||
| ENST00000688574.1:n.1603T>G | ||
| ENST00000691124.1:n.4456T>G | ||
| ENST00000342988.8:c.1495T>G MANE Select | ENSP00000341551.3:p.Cys499Gly | |
| ENST00000342988.7:c.1495T>G | ENSP00000341551.3:p.Cys499Gly | |
| ENST00000398417.6:c.1495T>G | ENSP00000381452.1:p.Cys499Gly | |
| ENST00000586253.1:n.217T>G | ||
| ENST00000588745.5:c.1207T>G | ENSP00000464901.1:p.Cys403Gly | |
| ENST00000591126.5:n.3496T>G | ||
| ENST00000592186.5:c.1142T>G | ENSP00000468611.1:n.1142T>G | |
| ENST00000611848.1:c.808T>G | ||
| NM_005359.5:c.1495T>G , LRG_318t1:c.1495T>G | NP_005350.1:p.Cys499Gly | |
| NM_005359.6:c.1495T>G MANE Select | NP_005350.1:p.Cys499Gly |