Revel Score:
ENST00000540367
0.975
ENST00000376618
0.975
ENST00000265641 (MANE Select)
0.975
ENST00000538308
0.975
ENST00000539743
0.975
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68784951A>C , CM000673.2:g.68784951A>C | GRCh38 |
| NC_000011.9:g.68552419A>C , CM000673.1:g.68552419A>C | GRCh37 |
| NC_000011.8:g.68308995A>C | NCBI36 |
| NG_011801.1:g.61981T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.1027T>G MANE Select | ENSP00000265641.4:p.Phe343Val | |
| ENST00000265641.9:c.1027T>G | ENSP00000265641.4:p.Phe343Val | |
| ENST00000376618.6:c.1027T>G | ENSP00000365803.2:p.Phe343Val | |
| ENST00000539743.5:c.1027T>G | ENSP00000446108.1:p.Phe343Val | |
| ENST00000540367.5:c.1027T>G | ENSP00000439084.1:p.Phe343Val | |
| NM_001031847.2:c.1027T>G | NP_001027017.1:p.Phe343Val | |
| NM_001876.3:c.1027T>G | NP_001867.2:p.Phe343Val | |
| XM_005273762.1:c.1123T>G | XP_005273819.1:p.Phe375Val | |
| XM_005273763.1:c.1123T>G | XP_005273820.1:p.Phe375Val | |
| XM_005273762.3:c.1123T>G | XP_005273819.1:p.Phe375Val | |
| XM_017017220.1:c.1027T>G | XP_016872709.1:p.Phe343Val | |
| NM_001876.4:c.1027T>G MANE Select | NP_001867.2:p.Phe343Val | |
| NM_001031847.3:c.1027T>G | NP_001027017.1:p.Phe343Val |