Revel Score:
ENST00000380259
0.563
ENST00000336906 (MANE Select)
0.563
ENST00000380247
0.563
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005304 (EAS)
Genomes Max Group AF
0.00006906 (EAS)
Exomes Max Group AF
0.00002497 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254725C>A , CM000673.2:g.5254725C>A | GRCh38 |
| NC_000011.9:g.5275955C>A , CM000673.1:g.5275955C>A | GRCh37 |
| NC_000011.8:g.5232531C>A | NCBI36 |
| NG_000007.3:g.42891G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.4G>T MANE Select | ENSP00000338082.4:p.Gly2Cys | |
| ENST00000380252.6:c.-73-211G>T | ENSP00000369602.2:n.-73-211G>T | |
| ENST00000380259.7:c.1550G>T | ENSP00000369609.3:n.1550G>T | |
| ENST00000642908.1:c.4G>T | ENSP00000495346.1:p.Gly2Cys | |
| ENST00000647543.1:c.4G>T | ENSP00000496470.1:p.Gly2Cys | |
| ENST00000336906.4:c.4G>T | ENSP00000338082.4:p.Gly2Cys | |
| ENST00000380252.5:c.63-211G>T | ENSP00000369602.1:n.63-211G>T | |
| ENST00000380259.6:c.4G>T | ENSP00000369609.2:p.Gly2Cys | |
| ENST00000444587.1:c.4G>T | ENSP00000488218.1:p.Gly2Cys | |
| ENST00000620888.4:c.4G>T | ENSP00000479637.1:p.Gly2Cys | |
| ENST00000624109.1:c.354C>A | ENSP00000485458.1:p.Thr118= | |
| NM_000184.2:c.4G>T | NP_000175.1:p.Gly2Cys | |
| NM_000184.3:c.4G>T MANE Select | NP_000175.1:p.Gly2Cys |