Revel Score:
ENST00000302118 (MANE Select)
0.570
ENST00000543384
0.570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55052402C>A , CM000663.2:g.55052402C>A | GRCh38 |
| NC_000001.10:g.55518075C>A , CM000663.1:g.55518075C>A | GRCh37 |
| NC_000001.9:g.55290663C>A | NCBI36 |
| NG_009061.1:g.17856C>A , LRG_275:g.17856C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.648C>A | ENSP00000501161.2:p.Phe216Leu | |
| ENST00000710286.1:c.1005C>A | ENSP00000518176.1:p.Phe335Leu | |
| ENST00000673726.1:c.*144C>A | ENSP00000501004.1:n.*144C>A | |
| ENST00000673903.1:c.273C>A | ENSP00000501257.1:p.Phe91Leu | |
| ENST00000302118.5:c.648C>A MANE Select | ENSP00000303208.5:p.Phe216Leu | |
| ENST00000490692.1:n.1469C>A | ||
| NM_174936.3:c.648C>A , LRG_275t1:c.648C>A | NP_777596.2:p.Phe216Leu | |
| NR_110451.1:n.307C>A | ||
| NM_174936.4:c.648C>A MANE Select | NP_777596.2:p.Phe216Leu | |
| NR_110451.2:n.307C>A |