Revel Score:
ENST00000540367
0.848
ENST00000376618
0.848
ENST00000265641 (MANE Select)
0.848
ENST00000538308
0.848
ENST00000539743
0.848
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68793341G>A , CM000673.2:g.68793341G>A | GRCh38 |
| NC_000011.9:g.68560809G>A , CM000673.1:g.68560809G>A | GRCh37 |
| NC_000011.8:g.68317385G>A | NCBI36 |
| NG_011801.1:g.53591C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.941C>T MANE Select | ENSP00000265641.4:p.Thr314Ile | |
| ENST00000265641.9:c.941C>T | ENSP00000265641.4:p.Thr314Ile | |
| ENST00000376618.6:c.941C>T | ENSP00000365803.2:p.Thr314Ile | |
| ENST00000538994.1:c.197C>T | ENSP00000454332.1:p.Thr66Ile | |
| ENST00000539743.5:c.941C>T | ENSP00000446108.1:p.Thr314Ile | |
| ENST00000540367.5:c.941C>T | ENSP00000439084.1:p.Thr314Ile | |
| NM_001031847.2:c.941C>T | NP_001027017.1:p.Thr314Ile | |
| NM_001876.3:c.941C>T | NP_001867.2:p.Thr314Ile | |
| XM_005273762.1:c.1037C>T | XP_005273819.1:p.Thr346Ile | |
| XM_005273763.1:c.1037C>T | XP_005273820.1:p.Thr346Ile | |
| XM_005273762.3:c.1037C>T | XP_005273819.1:p.Thr346Ile | |
| XM_017017220.1:c.941C>T | XP_016872709.1:p.Thr314Ile | |
| NM_001876.4:c.941C>T MANE Select | NP_001867.2:p.Thr314Ile | |
| NM_001031847.3:c.941C>T | NP_001027017.1:p.Thr314Ile |