Revel Score:
ENST00000261304 (MANE Select)
0.722
ENST00000544807
0.722
ENST00000393569
0.722
ENST00000539620
0.722
ENST00000393568
0.722
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01528638 (AFR)
Genomes Max Group AF
0.01448629 (AFR)
Exomes Max Group AF
0.01559268 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87947814G>C , CM000676.2:g.87947814G>C | GRCh38 |
| NC_000014.8:g.88414158G>C , CM000676.1:g.88414158G>C | GRCh37 |
| NC_000014.7:g.87483911G>C | NCBI36 |
| NG_011853.2:g.50750C>G | |
| NG_011853.3:g.50750C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1403C>G MANE Select | ENSP00000261304.2:p.Thr468Ser | |
| ENST00000261304.6:c.1403C>G | ENSP00000261304.2:p.Thr468Ser | |
| ENST00000393568.8:c.1334C>G | ENSP00000377198.4:p.Thr445Ser | |
| ENST00000393569.6:c.1325C>G | ENSP00000377199.2:p.Thr442Ser | |
| ENST00000544807.6:c.1235C>G | ENSP00000437513.2:p.Thr412Ser | |
| ENST00000555000.5:c.770C>G | ENSP00000450472.1:p.Thr257Ser | |
| ENST00000555179.1:c.120C>G | ||
| ENST00000557316.5:c.*801C>G | ENSP00000452314.1:n.*801C>G | |
| NM_000153.3:c.1403C>G | NP_000144.2:p.Thr468Ser | |
| NM_001201401.1:c.1334C>G | NP_001188330.1:p.Thr445Ser | |
| NM_001201402.1:c.1325C>G | NP_001188331.1:p.Thr442Ser | |
| XM_011536618.1:c.1235C>G | XP_011534920.1:p.Thr412Ser | |
| XM_011536618.2:c.1235C>G | XP_011534920.1:p.Thr412Ser | |
| NM_000153.4:c.1403C>G MANE Select | NP_000144.2:p.Thr468Ser | |
| NM_001201401.2:c.1334C>G | NP_001188330.1:p.Thr445Ser | |
| NM_001201402.2:c.1325C>G | NP_001188331.1:p.Thr442Ser |