Revel Score:
ENST00000389048 (MANE Select)
0.308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29223442T>A , CM000664.2:g.29223442T>A | GRCh38 |
| NC_000002.11:g.29446308T>A , CM000664.1:g.29446308T>A | GRCh37 |
| NC_000002.10:g.29299812T>A | NCBI36 |
| NG_009445.1:g.703125A>T , LRG_488:g.703125A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3259A>T MANE Select | ENSP00000373700.3:p.Thr1087Ser | |
| ENST00000431873.6:c.486A>T | ||
| ENST00000638605.1:n.136A>T | ||
| ENST00000642122.1:c.55A>T | ENSP00000493203.1:p.Thr19Ser | |
| ENST00000389048.7:c.3259A>T | ENSP00000373700.3:p.Thr1087Ser | |
| ENST00000431873.5:c.139A>T | ENSP00000414027.2:p.Thr47Ser | |
| ENST00000618119.4:c.2128A>T | ENSP00000482733.1:p.Thr710Ser | |
| NM_004304.4:c.3259A>T | NP_004295.2:p.Thr1087Ser | |
| NM_001353765.1:c.55A>T | NP_001340694.1:p.Thr19Ser | |
| XM_024452778.1:c.412A>T | XP_024308546.1:p.Thr138Ser | |
| XM_024452779.1:c.55A>T | XP_024308547.1:p.Thr19Ser | |
| NM_004304.5:c.3259A>T MANE Select | NP_004295.2:p.Thr1087Ser | |
| NM_001353765.2:c.55A>T | NP_001340694.1:p.Thr19Ser |