Revel Score:
ENST00000535144
0.016
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000738 (EAS)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137099745A>G , CM000671.2:g.137099745A>G | GRCh38 |
| NC_000009.11:g.139994197A>G , CM000671.1:g.139994197A>G | GRCh37 |
| NC_000009.10:g.139114018A>G | NCBI36 |
| NG_031978.1:g.17819A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371587.9:c.*482A>G | ENSP00000483132.2:n.*482A>G | |
| ENST00000475449.7:c.731-1260A>G | ENSP00000448658.2:n.731-1260A>G | |
| ENST00000535144.6:c.780A>G | ENSP00000441398.3:p.Ala260= | |
| ENST00000542372.2:c.696A>G | ENSP00000444189.2:p.Ala232= | |
| ENST00000544448.6:c.780A>G | ENSP00000444966.2:p.Ala260= | |
| ENST00000545539.6:c.*685A>G | ENSP00000440314.2:n.*685A>G | |
| ENST00000682117.1:c.780A>G | ENSP00000507328.1:p.Ala260= | |
| ENST00000682210.1:n.804A>G | ||
| ENST00000682212.1:c.780A>G | ENSP00000508217.1:p.Ala260= | |
| ENST00000682425.1:n.1030A>G | ||
| ENST00000682881.1:c.780A>G | ENSP00000506762.1:p.Ala260= | |
| ENST00000682964.1:n.128A>G | ||
| ENST00000683113.1:n.413A>G | ||
| ENST00000683135.1:c.780A>G | ENSP00000507130.1:p.Ala260= | |
| ENST00000683324.1:c.777A>G | ENSP00000507373.1:p.Ala259= | |
| ENST00000683355.1:c.780A>G | ENSP00000508045.1:p.Ala260= | |
| ENST00000683475.1:c.780A>G | ENSP00000507749.1:p.Ala260= | |
| ENST00000683979.1:c.*482A>G | ENSP00000507362.1:n.*482A>G | |
| ENST00000683987.1:c.780A>G | ENSP00000507715.1:p.Ala260= | |
| ENST00000684138.1:c.*482A>G | ENSP00000506755.1:n.*482A>G | |
| ENST00000684144.1:c.777A>G | ENSP00000508213.1:p.Ala259= | |
| ENST00000684229.1:n.823A>G | ||
| ENST00000684272.1:c.*685A>G | ENSP00000506776.1:n.*685A>G | |
| ENST00000684297.1:c.780A>G | ENSP00000507160.1:p.Ala260= | |
| ENST00000684366.1:c.780A>G | ENSP00000507668.1:p.Ala260= | |
| ENST00000684645.1:n.800A>G | ||
| ENST00000684759.1:c.780A>G | ENSP00000507818.1:p.Ala260= | |
| ENST00000371589.9:c.780A>G MANE Select | ENSP00000360645.4:p.Ala260= | |
| ENST00000371587.8:c.830A>G | ENSP00000483132.1:n.830A>G | |
| ENST00000371589.8:c.780A>G | ENSP00000360645.4:p.Ala260= | |
| ENST00000474902.5:n.426A>G | ||
| ENST00000535144.5:c.672A>G | ENSP00000441398.2:p.Ala224= | |
| ENST00000544448.5:c.780A>G | ENSP00000444966.2:p.Ala260= | |
| NM_016219.4:c.780A>G | NP_057303.2:p.Ala260= | |
| NR_045720.1:n.853A>G | ||
| NR_045721.1:n.984A>G | ||
| XM_006716945.2:c.780A>G | XP_006717008.1:p.Ala260= | |
| XM_006716945.4:c.780A>G | XP_006717008.1:p.Ala260= | |
| XM_017014239.1:c.483A>G | XP_016869728.1:p.Ala161= | |
| XM_024447403.1:c.780A>G | XP_024303171.1:p.Ala260= | |
| XR_001746176.1:n.970A>G | ||
| NM_016219.5:c.780A>G MANE Select | NP_057303.2:p.Ala260= | |
| NR_045720.2:n.795A>G | ||
| NR_045721.2:n.926A>G |