Revel Score:
ENST00000391984 (MANE Select)
0.078
ENST00000352879
0.078
ENST00000354082
0.078
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99205407 (EAS)
Genomes Max Group AF
0.98633855 (AFR)
Exomes Max Group AF
0.99153296 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240598657A>G , CM000664.2:g.240598657A>G | GRCh38 |
| NC_000002.11:g.241538074A>G , CM000664.1:g.241538074A>G | GRCh37 |
| NC_000002.10:g.241186747A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391984.7:c.1996A>G MANE Select | ENSP00000375844.2:p.Ile666Val | |
| ENST00000270361.15:c.*1160A>G | ENSP00000270361.11:n.*1160A>G | |
| ENST00000270364.11:c.273+9183A>G | ENSP00000270364.7:n.273+9183A>G | |
| ENST00000352879.8:c.394A>G | ENSP00000289381.6:p.Ile132Val | |
| ENST00000354082.8:c.1531A>G | ENSP00000270362.6:p.Ile511Val | |
| ENST00000357048.8:c.*192A>G | ENSP00000349556.4:n.*192A>G | |
| ENST00000391983.7:c.*192A>G | ENSP00000375843.3:n.*192A>G | |
| ENST00000391984.6:c.1996A>G | ENSP00000375844.2:p.Ile666Val | |
| ENST00000404753.7:c.1950A>G | ENSP00000384422.3:p.Pro650= | |
| ENST00000416591.5:c.*711A>G | ENSP00000400144.1:n.*711A>G | |
| ENST00000426297.1:c.117A>G | ||
| ENST00000494738.5:n.3960A>G | ||
| NM_023083.4:c.1996A>G MANE Select | NP_075571.2:p.Ile666Val | |
| NM_023085.4:c.1531A>G | NP_075573.3:p.Ile511Val |