Revel Score:
ENST00000340941 (MANE Select)
0.282
ENST00000323375
0.282
ENST00000509539
0.282
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004285 (AMR)
Exomes Max Group AF
0.00004358 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646214A>G , CM000667.2:g.71646214A>G | GRCh38 |
| NC_000005.9:g.70942041A>G , CM000667.1:g.70942041A>G | GRCh37 |
| NC_000005.8:g.70977797A>G | NCBI36 |
| NG_008882.1:g.63927A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2761A>G | ||
| ENST00000505787.8:n.2984A>G | ||
| ENST00000509539.3:c.479A>G | ENSP00000425474.3:n.479A>G | |
| ENST00000681968.1:c.646A>G | ENSP00000508143.1:p.Thr216Ala | |
| ENST00000681991.1:n.1237A>G | ||
| ENST00000682045.1:c.1009A>G | ENSP00000507329.1:p.Thr337Ala | |
| ENST00000682214.1:c.760A>G | ENSP00000507336.1:p.Thr254Ala | |
| ENST00000682231.1:n.171A>G | ||
| ENST00000682438.1:n.3152A>G | ||
| ENST00000682499.1:n.1974A>G | ||
| ENST00000682541.1:c.*51A>G | ENSP00000507673.1:n.*51A>G | |
| ENST00000682640.1:n.857A>G | ||
| ENST00000682667.1:n.1318A>G | ||
| ENST00000682687.1:c.*105A>G | ENSP00000507945.1:n.*105A>G | |
| ENST00000682727.1:c.1144A>G | ENSP00000507393.1:p.Thr382Ala | |
| ENST00000682876.1:c.1282A>G | ENSP00000508389.1:p.Thr428Ala | |
| ENST00000683098.1:c.807A>G | ENSP00000507670.1:p.Val269= | |
| ENST00000683258.1:c.*874A>G | ENSP00000507448.1:n.*874A>G | |
| ENST00000683339.1:c.937A>G | ENSP00000507758.1:p.Thr313Ala | |
| ENST00000683403.1:c.1063A>G | ENSP00000507896.1:p.Thr355Ala | |
| ENST00000683429.1:c.760A>G | ENSP00000507697.1:p.Thr254Ala | |
| ENST00000683789.1:c.1039A>G | ENSP00000507012.1:p.Thr347Ala | |
| ENST00000683847.1:n.1323A>G | ||
| ENST00000683882.1:c.*94A>G | ENSP00000506735.1:n.*94A>G | |
| ENST00000684024.1:c.*824A>G | ENSP00000507175.1:n.*824A>G | |
| ENST00000684132.1:c.81A>G | ||
| ENST00000684254.1:c.*879A>G | ENSP00000508001.1:n.*879A>G | |
| ENST00000684310.1:c.319A>G | ENSP00000507550.1:p.Thr107Ala | |
| ENST00000684474.1:n.789A>G | ||
| ENST00000684530.1:c.335-2883A>G | ENSP00000507439.1:n.335-2883A>G | |
| ENST00000684686.1:n.772A>G | ||
| ENST00000340941.11:c.1153A>G MANE Select | ENSP00000343657.6:p.Thr385Ala | |
| ENST00000340941.10:c.1153A>G | ENSP00000343657.6:p.Thr385Ala | |
| ENST00000509539.2:c.469A>G | ENSP00000425474.2:p.Thr157Ala | |
| ENST00000512218.6:c.*105A>G | ENSP00000423202.2:n.*105A>G | |
| NM_022132.4:c.1153A>G | NP_071415.1:p.Thr385Ala | |
| XM_005248567.1:c.1039A>G | XP_005248624.1:p.Thr347Ala | |
| NM_001363147.1:c.1039A>G | NP_001350076.1:p.Thr347Ala | |
| XR_001742172.1:n.1241A>G | ||
| NM_022132.5:c.1153A>G MANE Select | NP_071415.1:p.Thr385Ala |