Revel Score:
ENST00000302118 (MANE Select)
0.569
ENST00000543384
0.569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55052402C>G , CM000663.2:g.55052402C>G | GRCh38 |
| NC_000001.10:g.55518075C>G , CM000663.1:g.55518075C>G | GRCh37 |
| NC_000001.9:g.55290663C>G | NCBI36 |
| NG_009061.1:g.17856C>G , LRG_275:g.17856C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.648C>G | ENSP00000501161.2:p.Phe216Leu | |
| ENST00000710286.1:c.1005C>G | ENSP00000518176.1:p.Phe335Leu | |
| ENST00000673726.1:c.*144C>G | ENSP00000501004.1:n.*144C>G | |
| ENST00000673903.1:c.273C>G | ENSP00000501257.1:p.Phe91Leu | |
| ENST00000302118.5:c.648C>G MANE Select | ENSP00000303208.5:p.Phe216Leu | |
| ENST00000490692.1:n.1469C>G | ||
| NM_174936.3:c.648C>G , LRG_275t1:c.648C>G | NP_777596.2:p.Phe216Leu | |
| NR_110451.1:n.307C>G | ||
| NM_174936.4:c.648C>G MANE Select | NP_777596.2:p.Phe216Leu | |
| NR_110451.2:n.307C>G |