Revel Score:
ENST00000290597
0.666
ENST00000375341 (MANE Select)
0.666
ENST00000538839
0.666
ENST00000538309
0.666
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18877498G>C , CM000663.2:g.18877498G>C | GRCh38 |
| NC_000001.10:g.19203992G>C , CM000663.1:g.19203992G>C | GRCh37 |
| NC_000001.9:g.19076579G>C | NCBI36 |
| NG_012283.1:g.30302C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.1055C>G MANE Select | ENSP00000364490.3:p.Ser352Trp | |
| ENST00000290597.9:c.1055C>G | ENSP00000290597.5:p.Ser352Trp | |
| ENST00000375341.7:c.1055C>G | ENSP00000364490.3:p.Ser352Trp | |
| ENST00000494072.3:c.2107C>G | ||
| ENST00000538309.5:c.875C>G | ENSP00000442988.1:p.Ser292Trp | |
| ENST00000538839.5:c.1055C>G | ENSP00000446071.1:p.Ser352Trp | |
| NM_001161504.1:c.875C>G | NP_001154976.1:p.Ser292Trp | |
| NM_003748.3:c.1055C>G | NP_003739.2:p.Ser352Trp | |
| NM_170726.2:c.1055C>G | NP_733844.1:p.Ser352Trp | |
| XM_011542352.1:c.1055C>G | XP_011540654.1:p.Ser352Trp | |
| XM_011542353.1:c.867C>G | XP_011540655.1:p.Leu289= | |
| XR_946786.1:n.924C>G | ||
| NM_001319218.1:c.1055C>G | NP_001306147.1:p.Ser352Trp | |
| XR_001737510.1:n.924C>G | ||
| NM_003748.4:c.1055C>G MANE Select | NP_003739.2:p.Ser352Trp | |
| NM_170726.3:c.1055C>G | NP_733844.1:p.Ser352Trp | |
| NM_001161504.2:c.875C>G | NP_001154976.1:p.Ser292Trp | |
| NM_001319218.2:c.1055C>G | NP_001306147.1:p.Ser352Trp |