Revel Score:
ENST00000340941 (MANE Select)
0.485
ENST00000323375
0.485
ENST00000509539
0.485
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646215C>G , CM000667.2:g.71646215C>G | GRCh38 |
| NC_000005.9:g.70942042C>G , CM000667.1:g.70942042C>G | GRCh37 |
| NC_000005.8:g.70977798C>G | NCBI36 |
| NG_008882.1:g.63928C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2762C>G | ||
| ENST00000505787.8:n.2985C>G | ||
| ENST00000509539.3:c.480C>G | ENSP00000425474.3:n.480C>G | |
| ENST00000681968.1:c.647C>G | ENSP00000508143.1:p.Thr216Ser | |
| ENST00000681991.1:n.1238C>G | ||
| ENST00000682045.1:c.1010C>G | ENSP00000507329.1:p.Thr337Ser | |
| ENST00000682214.1:c.761C>G | ENSP00000507336.1:p.Thr254Ser | |
| ENST00000682231.1:n.172C>G | ||
| ENST00000682438.1:n.3153C>G | ||
| ENST00000682499.1:n.1975C>G | ||
| ENST00000682541.1:c.*52C>G | ENSP00000507673.1:n.*52C>G | |
| ENST00000682640.1:n.858C>G | ||
| ENST00000682667.1:n.1319C>G | ||
| ENST00000682687.1:c.*106C>G | ENSP00000507945.1:n.*106C>G | |
| ENST00000682727.1:c.1145C>G | ENSP00000507393.1:p.Thr382Ser | |
| ENST00000682876.1:c.1283C>G | ENSP00000508389.1:p.Thr428Ser | |
| ENST00000683098.1:c.808C>G | ENSP00000507670.1:p.Leu270Val | |
| ENST00000683258.1:c.*875C>G | ENSP00000507448.1:n.*875C>G | |
| ENST00000683339.1:c.938C>G | ENSP00000507758.1:p.Thr313Ser | |
| ENST00000683403.1:c.1064C>G | ENSP00000507896.1:p.Thr355Ser | |
| ENST00000683429.1:c.761C>G | ENSP00000507697.1:p.Thr254Ser | |
| ENST00000683789.1:c.1040C>G | ENSP00000507012.1:p.Thr347Ser | |
| ENST00000683847.1:n.1324C>G | ||
| ENST00000683882.1:c.*95C>G | ENSP00000506735.1:n.*95C>G | |
| ENST00000684024.1:c.*825C>G | ENSP00000507175.1:n.*825C>G | |
| ENST00000684132.1:c.82C>G | ||
| ENST00000684254.1:c.*880C>G | ENSP00000508001.1:n.*880C>G | |
| ENST00000684310.1:c.320C>G | ENSP00000507550.1:p.Thr107Ser | |
| ENST00000684474.1:n.790C>G | ||
| ENST00000684530.1:c.335-2882C>G | ENSP00000507439.1:n.335-2882C>G | |
| ENST00000684686.1:n.773C>G | ||
| ENST00000340941.11:c.1154C>G MANE Select | ENSP00000343657.6:p.Thr385Ser | |
| ENST00000340941.10:c.1154C>G | ENSP00000343657.6:p.Thr385Ser | |
| ENST00000509539.2:c.470C>G | ENSP00000425474.2:p.Thr157Ser | |
| ENST00000512218.6:c.*106C>G | ENSP00000423202.2:n.*106C>G | |
| NM_022132.4:c.1154C>G | NP_071415.1:p.Thr385Ser | |
| XM_005248567.1:c.1040C>G | XP_005248624.1:p.Thr347Ser | |
| NM_001363147.1:c.1040C>G | NP_001350076.1:p.Thr347Ser | |
| XR_001742172.1:n.1242C>G | ||
| NM_022132.5:c.1154C>G MANE Select | NP_071415.1:p.Thr385Ser |