Revel Score:
ENST00000333646
0.053
ENST00000536756
0.053
ENST00000374102
0.053
ENST00000374080 (MANE Select)
0.053
ENST00000430072
0.053
ENST00000439750
0.053
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71136614A>T , CM000685.2:g.71136614A>T | GRCh38 |
| NC_000023.10:g.70356464A>T , CM000685.1:g.70356464A>T | GRCh37 |
| NC_000023.9:g.70273189A>T | NCBI36 |
| NG_012808.1:g.23059A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.5239A>T | ENSP00000333125.8:p.Thr1747Ser | |
| ENST00000374102.6:c.5359A>T | ENSP00000363215.2:p.Thr1787Ser | |
| ENST00000444034.2:c.334A>T | ENSP00000404373.2:p.Thr112Ser | |
| ENST00000685182.1:n.2162A>T | ||
| ENST00000686169.1:n.1736A>T | ||
| ENST00000686548.1:c.*5255A>T | ENSP00000509582.1:n.*5255A>T | |
| ENST00000687161.1:n.2074A>T | ||
| ENST00000687382.1:c.5359A>T | ENSP00000510724.1:p.Thr1787Ser | |
| ENST00000687701.1:n.2109A>T | ||
| ENST00000688079.1:n.3354A>T | ||
| ENST00000688508.1:n.910A>T | ||
| ENST00000688663.1:c.*2280A>T | ENSP00000509348.1:n.*2280A>T | |
| ENST00000688774.1:c.334A>T | ENSP00000508823.1:p.Thr112Ser | |
| ENST00000688881.1:n.2013A>T | ||
| ENST00000688993.1:n.1730A>T | ||
| ENST00000689768.1:n.3969A>T | ||
| ENST00000690145.1:c.5359A>T | ENSP00000508818.1:p.Thr1787Ser | |
| ENST00000690242.1:c.5359A>T | ENSP00000510090.1:p.Thr1787Ser | |
| ENST00000690250.1:n.3028A>T | ||
| ENST00000690807.1:c.334A>T | ENSP00000510476.1:p.Thr112Ser | |
| ENST00000690828.1:n.5615A>T | ||
| ENST00000691113.1:c.3838A>T | ENSP00000509755.1:n.3838A>T | |
| ENST00000691426.1:n.4658A>T | ||
| ENST00000691468.1:c.5308A>T | ENSP00000509011.1:p.Thr1770Ser | |
| ENST00000691909.1:n.2079A>T | ||
| ENST00000692304.1:c.5359A>T | ENSP00000508427.1:p.Thr1787Ser | |
| ENST00000692893.1:n.2668A>T | ||
| ENST00000692964.1:n.2193A>T | ||
| ENST00000693182.1:n.63A>T | ||
| ENST00000693324.1:c.5323A>T | ENSP00000508643.1:p.Thr1775Ser | |
| ENST00000693391.1:c.3304A>T | ENSP00000509563.1:p.Thr1102Ser | |
| ENST00000374080.8:c.5359A>T MANE Select | ENSP00000363193.3:p.Thr1787Ser | |
| ENST00000333646.10:c.4900A>T | ENSP00000333125.7:p.Thr1634Ser | |
| ENST00000374080.7:c.5359A>T | ENSP00000363193.3:p.Thr1787Ser | |
| ENST00000374102.5:c.5359A>T | ENSP00000363215.1:p.Thr1787Ser | |
| ENST00000444034.1:c.21A>T | ||
| NM_005120.2:c.5359A>T | NP_005111.2:p.Thr1787Ser | |
| XM_005262317.1:c.5359A>T | XP_005262374.1:p.Thr1787Ser | |
| XM_005262319.1:c.5359A>T | XP_005262376.1:p.Thr1787Ser | |
| NM_005120.3:c.5359A>T MANE Select | NP_005111.2:p.Thr1787Ser |