Revel Score:
ENST00000227752 (MANE Select)
0.048
ENST00000541785
0.048
ENST00000545409
0.048
ENST00000536858
0.048
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16556221 (NFE)
Genomes Max Group AF
0.16524738 (NFE)
Exomes Max Group AF
0.165443 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117993348A>G , CM000673.2:g.117993348A>G | GRCh38 |
| NC_000011.9:g.117864063A>G , CM000673.1:g.117864063A>G | GRCh37 |
| NC_000011.8:g.117369273A>G | NCBI36 |
| NG_016275.1:g.11958A>G , LRG_151:g.11958A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525467.2:n.823A>G | ||
| ENST00000696732.1:n.2324A>G | ||
| ENST00000227752.8:c.475A>G MANE Select | ENSP00000227752.4:p.Ser159Gly | |
| ENST00000529924.6:n.2053A>G | ||
| ENST00000227752.7:c.475A>G | ENSP00000227752.3:p.Ser159Gly | |
| ENST00000526544.5:c.*11A>G | ENSP00000435317.1:n.*11A>G | |
| ENST00000529924.5:n.2053A>G | ||
| ENST00000530178.1:n.341A>G | ||
| ENST00000530761.5:n.852A>G | ||
| ENST00000532009.1:n.291A>G | ||
| ENST00000533700.5:n.682A>G | ||
| ENST00000534335.1:n.295A>G | ||
| ENST00000534574.5:c.*415A>G | ENSP00000436328.1:n.*415A>G | |
| NM_001558.3:c.475A>G , LRG_151t1:c.475A>G | NP_001549.2:p.Ser159Gly | |
| NR_026691.1:n.682A>G | ||
| XM_024448493.1:c.28A>G | XP_024304261.1:p.Ser10Gly | |
| NM_001558.4:c.475A>G MANE Select | NP_001549.2:p.Ser159Gly | |
| NR_026691.2:n.679A>G |