Revel Score:
ENST00000444034
0.066
ENST00000333646
0.044
ENST00000536756
0.044
ENST00000374102
0.044
ENST00000374080 (MANE Select)
0.044
ENST00000430072
0.044
ENST00000439750
0.044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71136615C>G , CM000685.2:g.71136615C>G | GRCh38 |
| NC_000023.10:g.70356465C>G , CM000685.1:g.70356465C>G | GRCh37 |
| NC_000023.9:g.70273190C>G | NCBI36 |
| NG_012808.1:g.23060C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.5240C>G | ENSP00000333125.8:p.Thr1747Ser | |
| ENST00000374102.6:c.5360C>G | ENSP00000363215.2:p.Thr1787Ser | |
| ENST00000444034.2:c.335C>G | ENSP00000404373.2:p.Thr112Ser | |
| ENST00000685182.1:n.2163C>G | ||
| ENST00000686169.1:n.1737C>G | ||
| ENST00000686548.1:c.*5256C>G | ENSP00000509582.1:n.*5256C>G | |
| ENST00000687161.1:n.2075C>G | ||
| ENST00000687382.1:c.5360C>G | ENSP00000510724.1:p.Thr1787Ser | |
| ENST00000687701.1:n.2110C>G | ||
| ENST00000688079.1:n.3355C>G | ||
| ENST00000688508.1:n.911C>G | ||
| ENST00000688663.1:c.*2281C>G | ENSP00000509348.1:n.*2281C>G | |
| ENST00000688774.1:c.335C>G | ENSP00000508823.1:p.Thr112Ser | |
| ENST00000688881.1:n.2014C>G | ||
| ENST00000688993.1:n.1731C>G | ||
| ENST00000689768.1:n.3970C>G | ||
| ENST00000690145.1:c.5360C>G | ENSP00000508818.1:p.Thr1787Ser | |
| ENST00000690242.1:c.5360C>G | ENSP00000510090.1:p.Thr1787Ser | |
| ENST00000690250.1:n.3029C>G | ||
| ENST00000690807.1:c.335C>G | ENSP00000510476.1:p.Thr112Ser | |
| ENST00000690828.1:n.5616C>G | ||
| ENST00000691113.1:c.3839C>G | ENSP00000509755.1:n.3839C>G | |
| ENST00000691426.1:n.4659C>G | ||
| ENST00000691468.1:c.5309C>G | ENSP00000509011.1:p.Thr1770Ser | |
| ENST00000691909.1:n.2080C>G | ||
| ENST00000692304.1:c.5360C>G | ENSP00000508427.1:p.Thr1787Ser | |
| ENST00000692893.1:n.2669C>G | ||
| ENST00000692964.1:n.2194C>G | ||
| ENST00000693182.1:n.64C>G | ||
| ENST00000693324.1:c.5324C>G | ENSP00000508643.1:p.Thr1775Ser | |
| ENST00000693391.1:c.3305C>G | ENSP00000509563.1:p.Thr1102Ser | |
| ENST00000374080.8:c.5360C>G MANE Select | ENSP00000363193.3:p.Thr1787Ser | |
| ENST00000333646.10:c.4901C>G | ENSP00000333125.7:p.Thr1634Ser | |
| ENST00000374080.7:c.5360C>G | ENSP00000363193.3:p.Thr1787Ser | |
| ENST00000374102.5:c.5360C>G | ENSP00000363215.1:p.Thr1787Ser | |
| ENST00000444034.1:c.22C>G | ||
| NM_005120.2:c.5360C>G | NP_005111.2:p.Thr1787Ser | |
| XM_005262317.1:c.5360C>G | XP_005262374.1:p.Thr1787Ser | |
| XM_005262319.1:c.5360C>G | XP_005262376.1:p.Thr1787Ser | |
| NM_005120.3:c.5360C>G MANE Select | NP_005111.2:p.Thr1787Ser |