Revel Score:
ENST00000407106
0.685
ENST00000537726
0.685
ENST00000261755
0.685
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80153055A>G , CM000677.2:g.80153055A>G | GRCh38 |
| NC_000015.9:g.80445397A>G , CM000677.1:g.80445397A>G | GRCh37 |
| NC_000015.8:g.78232452A>G | NCBI36 |
| NG_012833.1:g.5057A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.1A>G | ENSP00000507680.1:p.Met1Val | |
| ENST00000682012.1:n.76A>G | ||
| ENST00000684363.1:c.1A>G | ENSP00000507314.1:p.Met1Val | |
| ENST00000684569.1:n.46A>G | ||
| ENST00000561421.6:c.1A>G MANE Select | ENSP00000453347.2:p.Met1Val | |
| ENST00000261755.9:c.1A>G | ENSP00000261755.5:p.Met1Val | |
| ENST00000407106.5:c.1A>G | ENSP00000385080.1:p.Met1Val | |
| ENST00000537726.5:n.83A>G | ||
| ENST00000558022.5:c.1A>G | ENSP00000453152.1:p.Met1Val | |
| ENST00000558767.5:n.262A>G | ||
| ENST00000561369.1:n.81A>G | ||
| ENST00000561421.5:c.1A>G | ENSP00000453347.1:p.Met1Val | |
| NM_000137.2:c.1A>G | NP_000128.1:p.Met1Val | |
| XM_024449872.1:c.1A>G | XP_024305640.1:p.Met1Val | |
| NM_000137.4:c.1A>G MANE Select | NP_000128.1:p.Met1Val | |
| NM_001374377.1:c.1A>G | NP_001361306.1:p.Met1Val | |
| NM_001374380.1:c.1A>G | NP_001361309.1:p.Met1Val |