Revel Score:
ENST00000370225 (MANE Select)
0.985
ENST00000535735
0.985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046952A>C , CM000663.2:g.94046952A>C | GRCh38 |
| NC_000001.10:g.94512508A>C , CM000663.1:g.94512508A>C | GRCh37 |
| NC_000001.9:g.94285096A>C | NCBI36 |
| NG_009073.1:g.79198T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2885T>G MANE Select | ENSP00000359245.3:p.Leu962Arg | |
| ENST00000649773.1:c.2663T>G | ENSP00000496882.1:p.Leu888Arg | |
| ENST00000370225.3:c.2885T>G | ENSP00000359245.3:p.Leu962Arg | |
| ENST00000536513.5:c.-64-6863T>G | ENSP00000439707.2:n.-64-6863T>G | |
| NM_000350.2:c.2885T>G | NP_000341.2:p.Leu962Arg | |
| NM_000350.3:c.2885T>G MANE Select | NP_000341.2:p.Leu962Arg |