Revel Score:
ENST00000416052
0.947
ENST00000374187
0.801
ENST00000374192
0.801
ENST00000525682
0.801
ENST00000236342 (MANE Select)
0.801
ENST00000526219
0.801
ENST00000360009
0.801
ENST00000436153
0.801
ENST00000430232
0.801
ENST00000431933
0.801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26457864A>G , CM000663.2:g.26457864A>G | GRCh38 |
| NC_000001.10:g.26784355A>G , CM000663.1:g.26784355A>G | GRCh37 |
| NC_000001.9:g.26656942A>G | NCBI36 |
| NG_029786.1:g.30583A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528557.6:c.616A>G | ENSP00000515248.1:p.Thr206Ala | |
| ENST00000703198.1:c.616A>G | ENSP00000515227.1:p.Thr206Ala | |
| ENST00000703199.1:c.397A>G | ENSP00000515228.1:p.Thr133Ala | |
| ENST00000703200.1:c.*374A>G | ENSP00000515229.1:n.*374A>G | |
| ENST00000703201.1:c.*1562A>G | ENSP00000515230.1:n.*1562A>G | |
| ENST00000703202.1:c.472A>G | ENSP00000515231.1:p.Thr158Ala | |
| ENST00000703203.1:c.*1562A>G | ENSP00000515232.1:n.*1562A>G | |
| ENST00000703262.1:c.616A>G | ENSP00000515247.1:p.Thr206Ala | |
| ENST00000703263.1:c.*147A>G | ENSP00000515249.1:n.*147A>G | |
| ENST00000703264.1:n.944A>G | ||
| ENST00000236342.12:c.616A>G MANE Select | ENSP00000236342.7:p.Thr206Ala | |
| ENST00000236342.11:c.616A>G | ENSP00000236342.7:p.Thr206Ala | |
| ENST00000360009.6:c.616A>G | ENSP00000353104.2:p.Thr206Ala | |
| ENST00000416052.1:c.245A>G | ||
| ENST00000430232.5:c.499A>G | ENSP00000397584.1:p.Thr167Ala | |
| ENST00000431933.5:c.229A>G | ENSP00000399781.1:p.Thr77Ala | |
| ENST00000434391.6:c.*417A>G | ENSP00000403529.2:n.*417A>G | |
| ENST00000525682.6:c.514A>G | ENSP00000434984.1:p.Thr172Ala | |
| ENST00000526219.5:c.499A>G | ENSP00000434219.1:p.Thr167Ala | |
| NM_001243564.1:c.514A>G | NP_001230493.1:p.Thr172Ala | |
| NM_001243565.1:c.499A>G | NP_001230494.1:p.Thr167Ala | |
| NM_024887.3:c.616A>G | NP_079163.2:p.Thr206Ala | |
| NM_205861.2:c.616A>G | NP_995583.1:p.Thr206Ala | |
| XM_006710912.1:c.616A>G | XP_006710975.1:p.Thr206Ala | |
| XM_006710913.1:c.616A>G | XP_006710976.1:p.Thr206Ala | |
| XM_006710914.1:c.616A>G | XP_006710977.1:p.Thr206Ala | |
| XM_006710915.1:c.514A>G | XP_006710978.1:p.Thr172Ala | |
| XM_006710916.1:c.337A>G | XP_006710979.1:p.Thr113Ala | |
| XM_006710917.1:c.337A>G | XP_006710980.1:p.Thr113Ala | |
| XM_006710918.1:c.337A>G | XP_006710981.1:p.Thr113Ala | |
| XM_006710919.1:c.337A>G | XP_006710982.1:p.Thr113Ala | |
| XM_011542183.1:c.616A>G | XP_011540485.1:p.Thr206Ala | |
| XM_011542184.1:c.616A>G | XP_011540486.1:p.Thr206Ala | |
| XM_011542185.1:c.514A>G | XP_011540487.1:p.Thr172Ala | |
| XM_011542186.1:c.514A>G | XP_011540488.1:p.Thr172Ala | |
| NM_001319959.1:c.337A>G | NP_001306888.1:p.Thr113Ala | |
| NM_205861.3:c.616A>G MANE Select | NP_995583.1:p.Thr206Ala | |
| NM_001243564.2:c.514A>G | NP_001230493.1:p.Thr172Ala | |
| NM_001243565.2:c.499A>G | NP_001230494.1:p.Thr167Ala | |
| NM_001319959.2:c.337A>G | NP_001306888.1:p.Thr113Ala | |
| NM_024887.4:c.616A>G | NP_079163.2:p.Thr206Ala |