Revel Score:
ENST00000442011 (MANE Select)
0.985
ENST00000398813
0.985
ENST00000305126
0.985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136055795T>G , CM000667.2:g.136055795T>G | GRCh38 |
| NC_000005.9:g.135391484T>G , CM000667.1:g.135391484T>G | GRCh37 |
| NC_000005.8:g.135419383T>G | NCBI36 |
| NG_012646.1:g.31901T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1526T>G MANE Select | ENSP00000416330.2:p.Leu509Arg | |
| ENST00000442011.6:c.1526T>G | ENSP00000416330.2:p.Leu509Arg | |
| ENST00000506699.5:n.2043T>G | ||
| ENST00000507018.5:c.1504T>G | ||
| ENST00000509485.5:c.441T>G | ||
| ENST00000514242.5:n.297T>G | ||
| ENST00000514554.5:c.678T>G | ||
| NM_000358.2:c.1526T>G | NP_000349.1:p.Leu509Arg | |
| NM_000358.3:c.1526T>G MANE Select | NP_000349.1:p.Leu509Arg |