Revel Score:
ENST00000264717 (MANE Select)
0.092
ENST00000424318
0.092
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27508073T>G , CM000664.2:g.27508073T>G | GRCh38 |
| NC_000002.11:g.27730940T>G , CM000664.1:g.27730940T>G | GRCh37 |
| NC_000002.10:g.27584444T>G | NCBI36 |
| NG_028024.1:g.16235T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264717.7:c.1337T>G MANE Select | ENSP00000264717.2:p.Leu446Arg | |
| ENST00000264717.6:c.1337T>G | ENSP00000264717.2:p.Leu446Arg | |
| ENST00000411584.1:c.439T>G | ||
| ENST00000478147.1:n.534T>G | ||
| NM_001486.3:c.1337T>G | NP_001477.2:p.Leu446Arg | |
| XM_011532761.1:c.1184T>G | XP_011531063.1:p.Leu395Arg | |
| XM_011532762.1:c.767T>G | XP_011531064.1:p.Leu256Arg | |
| XM_017003796.1:c.767T>G | XP_016859285.1:p.Leu256Arg | |
| XM_017003797.1:c.767T>G | XP_016859286.1:p.Leu256Arg | |
| NM_001486.4:c.1337T>G MANE Select | NP_001477.2:p.Leu446Arg |