Revel Score:
ENST00000227752 (MANE Select)
0.012
ENST00000541785
0.012
ENST00000545409
0.012
ENST00000536858
0.012
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36442465 (EAS)
Genomes Max Group AF
0.32542012 (EAS)
Exomes Max Group AF
0.36807948 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117994131A>G , CM000673.2:g.117994131A>G | GRCh38 |
| NC_000011.9:g.117864846A>G , CM000673.1:g.117864846A>G | GRCh37 |
| NC_000011.8:g.117370056A>G | NCBI36 |
| NG_016275.1:g.12741A>G , LRG_151:g.12741A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525467.2:n.1018A>G | ||
| ENST00000696732.1:n.2519A>G | ||
| ENST00000227752.8:c.670A>G MANE Select | ENSP00000227752.4:p.Ile224Val | |
| ENST00000529924.6:n.2248A>G | ||
| ENST00000227752.7:c.670A>G | ENSP00000227752.3:p.Ile224Val | |
| ENST00000526544.5:c.*206A>G | ENSP00000435317.1:n.*206A>G | |
| ENST00000529924.5:n.2248A>G | ||
| ENST00000530178.1:n.536A>G | ||
| ENST00000530761.5:n.1047A>G | ||
| ENST00000532009.1:n.486A>G | ||
| ENST00000533700.5:n.877A>G | ||
| ENST00000534574.5:c.*610A>G | ENSP00000436328.1:n.*610A>G | |
| NM_001558.3:c.670A>G , LRG_151t1:c.670A>G | NP_001549.2:p.Ile224Val | |
| NR_026691.1:n.877A>G | ||
| XM_024448493.1:c.223A>G | XP_024304261.1:p.Ile75Val | |
| NM_001558.4:c.670A>G MANE Select | NP_001549.2:p.Ile224Val | |
| NR_026691.2:n.874A>G |