Revel Score:
ENST00000261304 (MANE Select)
0.939
ENST00000544807
0.939
ENST00000393569
0.939
ENST00000539620
0.939
ENST00000393568
0.939
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87941433A>C , CM000676.2:g.87941433A>C | GRCh38 |
| NC_000014.8:g.88407777A>C , CM000676.1:g.88407777A>C | GRCh37 |
| NC_000014.7:g.87477530A>C | NCBI36 |
| NG_011853.2:g.57131T>G | |
| NG_011853.3:g.57131T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1796T>G MANE Select | ENSP00000261304.2:p.Ile599Ser | |
| ENST00000261304.6:c.1796T>G | ENSP00000261304.2:p.Ile599Ser | |
| ENST00000393568.8:c.1727T>G | ENSP00000377198.4:p.Ile576Ser | |
| ENST00000393569.6:c.1718T>G | ENSP00000377199.2:p.Ile573Ser | |
| ENST00000544807.6:c.1628T>G | ENSP00000437513.2:p.Ile543Ser | |
| ENST00000555000.5:c.1163T>G | ENSP00000450472.1:p.Ile388Ser | |
| ENST00000555179.1:c.332T>G | ||
| ENST00000557316.5:c.*1194T>G | ENSP00000452314.1:n.*1194T>G | |
| NM_000153.3:c.1796T>G | NP_000144.2:p.Ile599Ser | |
| NM_001201401.1:c.1727T>G | NP_001188330.1:p.Ile576Ser | |
| NM_001201402.1:c.1718T>G | NP_001188331.1:p.Ile573Ser | |
| XM_011536618.1:c.1628T>G | XP_011534920.1:p.Ile543Ser | |
| XM_011536618.2:c.1628T>G | XP_011534920.1:p.Ile543Ser | |
| NM_000153.4:c.1796T>G MANE Select | NP_000144.2:p.Ile599Ser | |
| NM_001201401.2:c.1727T>G | NP_001188330.1:p.Ile576Ser | |
| NM_001201402.2:c.1718T>G | NP_001188331.1:p.Ile573Ser |