ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00461397 (AFR)
Genomes Max Group AF
0.00444977 (AFR)
Exomes Max Group AF
0.00444125 (AFR)
Revel Score:
ENST00000430249
0.837
ENST00000539150
0.837
ENST00000233072 (MANE Select)
0.837
ENST00000451903
0.837
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210600635A>T , CM000664.2:g.210600635A>T | GRCh38 |
| NC_000002.11:g.211465359A>T , CM000664.1:g.211465359A>T | GRCh37 |
| NC_000002.10:g.211173604A>T | NCBI36 |
| NG_008285.1:g.127951A>T , LRG_336:g.127951A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233072.10:c.1630A>T MANE Select | ENSP00000233072.5:p.Thr544Ser | |
| ENST00000430249.7:c.1648A>T | ENSP00000402608.2:p.Thr550Ser | |
| ENST00000451903.3:c.277A>T | ENSP00000406136.2:p.Thr93Ser | |
| ENST00000673510.1:c.1630A>T | ENSP00000500537.1:p.Thr544Ser | |
| ENST00000673630.1:c.1630A>T | ENSP00000501073.1:p.Thr544Ser | |
| ENST00000673698.1:c.110A>T | ||
| ENST00000673711.1:c.1630A>T | ENSP00000501022.1:p.Thr544Ser | |
| ENST00000674074.1:n.775A>T | ||
| ENST00000233072.9:c.1630A>T | ENSP00000233072.5:p.Thr544Ser | |
| ENST00000430249.6:c.1648A>T | ENSP00000402608.2:p.Thr550Ser | |
| ENST00000451903.2:c.277A>T | ENSP00000406136.2:p.Thr93Ser | |
| NM_001122633.2:c.1648A>T | NP_001116105.1:p.Thr550Ser | |
| NM_001122634.3:c.277A>T | NP_001116106.1:p.Thr93Ser | |
| NM_001875.4:c.1630A>T , LRG_336t1:c.1630A>T | NP_001866.2:p.Thr544Ser | |
| XM_011510640.1:c.1663A>T | XP_011508942.1:p.Thr555Ser | |
| XM_011510641.1:c.1630A>T | XP_011508943.1:p.Thr544Ser | |
| XM_011510642.1:c.1630A>T | XP_011508944.1:p.Thr544Ser | |
| XM_011510643.1:c.1630A>T | XP_011508945.1:p.Thr544Ser | |
| XM_011510644.1:c.1630A>T | XP_011508946.1:p.Thr544Ser | |
| NM_001122633.3:c.1630A>T | NP_001116105.2:p.Thr544Ser | |
| NM_001369256.1:c.1663A>T | NP_001356185.1:p.Thr555Ser | |
| NM_001369257.1:c.1630A>T | NP_001356186.1:p.Thr544Ser | |
| NM_001875.5:c.1630A>T MANE Select | NP_001866.2:p.Thr544Ser | |
| NR_161225.1:n.2539A>T | ||
| NR_163592.1:n.786A>T |