Revel Score:
ENST00000535240
0.375
ENST00000243457 (MANE Select)
0.375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70176238C>G , CM000679.2:g.70176238C>G | GRCh38 |
| NC_000017.10:g.68172379C>G , CM000679.1:g.68172379C>G | GRCh37 |
| NC_000017.9:g.65683974C>G | NCBI36 |
| NG_008798.1:g.11704C>G , LRG_328:g.11704C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.1199C>G MANE Select | ENSP00000243457.2:p.Thr400Arg | |
| ENST00000243457.3:c.1199C>G | ENSP00000243457.2:p.Thr400Arg | |
| ENST00000535240.1:c.1199C>G | ENSP00000441848.1:p.Thr400Arg | |
| NM_000891.2:c.1199C>G , LRG_328t1:c.1199C>G | NP_000882.1:p.Thr400Arg | |
| XM_011524779.1:c.1199C>G | XP_011523081.1:p.Thr400Arg | |
| NM_000891.3:c.1199C>G MANE Select | NP_000882.1:p.Thr400Arg |