Revel Score:
ENST00000258341 (MANE Select)
0.145
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183125412T>G , CM000663.2:g.183125412T>G | GRCh38 |
| NC_000001.10:g.183094547T>G , CM000663.1:g.183094547T>G | GRCh37 |
| NC_000001.9:g.181361170T>G | NCBI36 |
| NG_011463.1:g.106953T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258341.5:c.2663T>G MANE Select | ENSP00000258341.3:p.Leu888Arg | |
| ENST00000258341.4:c.2663T>G | ENSP00000258341.3:p.Leu888Arg | |
| ENST00000466964.1:n.225T>G | ||
| NM_002293.3:c.2663T>G | NP_002284.3:p.Leu888Arg | |
| NM_002293.4:c.2663T>G MANE Select | NP_002284.3:p.Leu888Arg |