Revel Score:
ENST00000360168
0.061
ENST00000358945
0.061
ENST00000540037
0.061
ENST00000228916 (MANE Select)
0.061
ENST00000543768
0.061
gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6347896T>A , CM000674.2:g.6347896T>A | GRCh38 |
| NC_000012.11:g.6457062T>A , CM000674.1:g.6457062T>A | GRCh37 |
| NC_000012.10:g.6327323T>A | NCBI36 |
| NG_011945.1:g.34462A>T | |
| NG_011945.2:g.34462A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1987A>T MANE Select | ENSP00000228916.2:p.Thr663Ser | |
| ENST00000228916.6:c.1987A>T | ENSP00000228916.2:p.Thr663Ser | |
| ENST00000338748.9:c.*1058A>T | ENSP00000345028.5:n.*1058A>T | |
| ENST00000360168.7:c.2164A>T | ENSP00000353292.3:p.Thr722Ser | |
| ENST00000396966.6:c.*393A>T | ENSP00000380166.2:n.*393A>T | |
| ENST00000540037.5:c.1087A>T | ENSP00000440876.1:p.Thr363Ser | |
| ENST00000543768.1:c.2056A>T | ENSP00000438739.1:p.Thr686Ser | |
| NM_001038.5:c.1987A>T | NP_001029.1:p.Thr663Ser | |
| NM_001159575.1:c.2056A>T | NP_001153047.1:p.Thr686Ser | |
| NM_001159576.1:c.2164A>T | NP_001153048.1:p.Thr722Ser | |
| NM_001038.6:c.1987A>T MANE Select | NP_001029.1:p.Thr663Ser | |
| NM_001159576.2:c.2164A>T | NP_001153048.1:p.Thr722Ser | |
| NM_001159575.2:c.2056A>T | NP_001153047.1:p.Thr686Ser |