Revel Score:
ENST00000216465 (MANE Select)
0.090
ENST00000361389
0.090
ENST00000554279
0.090
ENST00000557639
0.090
ENST00000556627
0.090
ENST00000554846
0.090
ENST00000393734
0.090
ENST00000553586
0.090
ENST00000555583
0.090
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95740707 (EAS)
Genomes Max Group AF
0.93135801 (EAS)
Exomes Max Group AF
0.95839454 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77327940T>C , CM000676.2:g.77327940T>C | GRCh38 |
| NC_000014.8:g.77794283T>C , CM000676.1:g.77794283T>C | GRCh37 |
| NC_000014.7:g.76864036T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216465.10:c.245T>C MANE Select | ENSP00000216465.5:p.Met82Thr | |
| ENST00000216465.9:c.245T>C | ENSP00000216465.5:p.Met82Thr | |
| ENST00000349555.7:c.216+388T>C | ENSP00000314404.5:n.216+388T>C | |
| ENST00000361389.8:c.80T>C | ENSP00000354959.4:p.Met27Thr | |
| ENST00000393734.5:c.80T>C | ENSP00000377335.1:p.Met27Thr | |
| ENST00000553431.5:n.376T>C | ||
| ENST00000553586.5:c.248T>C | ENSP00000451976.1:p.Met83Thr | |
| ENST00000553838.5:n.774T>C | ||
| ENST00000554279.5:c.203T>C | ENSP00000452498.1:p.Met68Thr | |
| ENST00000554846.5:c.80T>C | ENSP00000452531.1:p.Met27Thr | |
| ENST00000555093.1:n.4653T>C | ||
| ENST00000555583.1:c.80T>C | ENSP00000452346.1:p.Met27Thr | |
| ENST00000556627.5:c.164T>C | ENSP00000450487.1:p.Met55Thr | |
| ENST00000557053.5:c.51+388T>C | ENSP00000451150.1:n.51+388T>C | |
| ENST00000557639.5:c.80T>C | ENSP00000451927.1:p.Met27Thr | |
| NM_001312660.1:c.80T>C | NP_001299589.1:p.Met27Thr | |
| NM_001513.3:c.80T>C | NP_001504.2:p.Met27Thr | |
| NM_145870.2:c.245T>C | NP_665877.1:p.Met82Thr | |
| NM_145871.2:c.216+388T>C | NP_665878.2:n.216+388T>C | |
| XM_005267559.2:c.80T>C | XP_005267616.1:p.Met27Thr | |
| XM_011536670.1:c.128T>C | XP_011534972.1:p.Met43Thr | |
| XM_011536671.1:c.219+388T>C | XP_011534973.1:n.219+388T>C | |
| NM_001363703.1:c.248T>C | NP_001350632.1:p.Met83Thr | |
| XM_011536670.2:c.128T>C | XP_011534972.1:p.Met43Thr | |
| XM_011536671.2:c.219+388T>C | XP_011534973.1:n.219+388T>C | |
| XM_024449549.1:c.128T>C | XP_024305317.1:p.Met43Thr | |
| XM_024449550.1:c.80T>C | XP_024305318.1:p.Met27Thr | |
| XM_024449551.1:c.80T>C | XP_024305319.1:p.Met27Thr | |
| XM_024449552.1:c.80T>C | XP_024305320.1:p.Met27Thr | |
| NM_145870.3:c.245T>C MANE Select | NP_665877.1:p.Met82Thr | |
| NM_001312660.2:c.80T>C | NP_001299589.1:p.Met27Thr | |
| NM_001363703.2:c.248T>C | NP_001350632.1:p.Met83Thr | |
| NM_145871.3:c.216+388T>C | NP_665878.2:n.216+388T>C |