Revel Score:
ENST00000340941 (MANE Select)
0.764
ENST00000323375
0.764
ENST00000509539
0.764
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646215C>T , CM000667.2:g.71646215C>T | GRCh38 |
| NC_000005.9:g.70942042C>T , CM000667.1:g.70942042C>T | GRCh37 |
| NC_000005.8:g.70977798C>T | NCBI36 |
| NG_008882.1:g.63928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2762C>T | ||
| ENST00000505787.8:n.2985C>T | ||
| ENST00000509539.3:c.480C>T | ENSP00000425474.3:n.480C>T | |
| ENST00000681968.1:c.647C>T | ENSP00000508143.1:p.Thr216Ile | |
| ENST00000681991.1:n.1238C>T | ||
| ENST00000682045.1:c.1010C>T | ENSP00000507329.1:p.Thr337Ile | |
| ENST00000682214.1:c.761C>T | ENSP00000507336.1:p.Thr254Ile | |
| ENST00000682231.1:n.172C>T | ||
| ENST00000682438.1:n.3153C>T | ||
| ENST00000682499.1:n.1975C>T | ||
| ENST00000682541.1:c.*52C>T | ENSP00000507673.1:n.*52C>T | |
| ENST00000682640.1:n.858C>T | ||
| ENST00000682667.1:n.1319C>T | ||
| ENST00000682687.1:c.*106C>T | ENSP00000507945.1:n.*106C>T | |
| ENST00000682727.1:c.1145C>T | ENSP00000507393.1:p.Thr382Ile | |
| ENST00000682876.1:c.1283C>T | ENSP00000508389.1:p.Thr428Ile | |
| ENST00000683098.1:c.808C>T | ENSP00000507670.1:p.Leu270Phe | |
| ENST00000683258.1:c.*875C>T | ENSP00000507448.1:n.*875C>T | |
| ENST00000683339.1:c.938C>T | ENSP00000507758.1:p.Thr313Ile | |
| ENST00000683403.1:c.1064C>T | ENSP00000507896.1:p.Thr355Ile | |
| ENST00000683429.1:c.761C>T | ENSP00000507697.1:p.Thr254Ile | |
| ENST00000683789.1:c.1040C>T | ENSP00000507012.1:p.Thr347Ile | |
| ENST00000683847.1:n.1324C>T | ||
| ENST00000683882.1:c.*95C>T | ENSP00000506735.1:n.*95C>T | |
| ENST00000684024.1:c.*825C>T | ENSP00000507175.1:n.*825C>T | |
| ENST00000684132.1:c.82C>T | ||
| ENST00000684254.1:c.*880C>T | ENSP00000508001.1:n.*880C>T | |
| ENST00000684310.1:c.320C>T | ENSP00000507550.1:p.Thr107Ile | |
| ENST00000684474.1:n.790C>T | ||
| ENST00000684530.1:c.335-2882C>T | ENSP00000507439.1:n.335-2882C>T | |
| ENST00000684686.1:n.773C>T | ||
| ENST00000340941.11:c.1154C>T MANE Select | ENSP00000343657.6:p.Thr385Ile | |
| ENST00000340941.10:c.1154C>T | ENSP00000343657.6:p.Thr385Ile | |
| ENST00000509539.2:c.470C>T | ENSP00000425474.2:p.Thr157Ile | |
| ENST00000512218.6:c.*106C>T | ENSP00000423202.2:n.*106C>T | |
| NM_022132.4:c.1154C>T | NP_071415.1:p.Thr385Ile | |
| XM_005248567.1:c.1040C>T | XP_005248624.1:p.Thr347Ile | |
| NM_001363147.1:c.1040C>T | NP_001350076.1:p.Thr347Ile | |
| XR_001742172.1:n.1242C>T | ||
| NM_022132.5:c.1154C>T MANE Select | NP_071415.1:p.Thr385Ile |