Revel Score:
ENST00000419748
0.181
ENST00000303236 (MANE Select)
0.181
ENST00000535951
0.181
ENST00000415570
0.181
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88595605T>A , CM000664.2:g.88595605T>A | GRCh38 |
| NC_000002.11:g.88895123T>A , CM000664.1:g.88895123T>A | GRCh37 |
| NC_000002.10:g.88676238T>A | NCBI36 |
| NG_016424.1:g.36972A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682892.1:c.44A>T | ENSP00000507214.1:p.Gln15Leu | |
| ENST00000303236.9:c.497A>T MANE Select | ENSP00000307235.3:p.Gln166Leu | |
| ENST00000652099.1:c.495A>T | ||
| ENST00000652736.1:n.373A>T | ||
| ENST00000303236.7:c.497A>T | ENSP00000307235.3:p.Gln166Leu | |
| ENST00000415570.1:c.134A>T | ENSP00000412076.1:p.Gln45Leu | |
| ENST00000419748.5:c.44A>T | ENSP00000408325.1:p.Gln15Leu | |
| NM_001313915.1:c.44A>T | NP_001300844.1:p.Gln15Leu | |
| NM_004836.5:c.497A>T | NP_004827.4:p.Gln166Leu | |
| NM_004836.6:c.497A>T | NP_004827.4:p.Gln166Leu | |
| XR_939749.1:n.706A>T | ||
| XM_017005376.2:c.-384A>T | XP_016860865.1:n.-384A>T | |
| NM_004836.7:c.497A>T MANE Select | NP_004827.4:p.Gln166Leu | |
| NM_001313915.2:c.44A>T | NP_001300844.1:p.Gln15Leu |