Revel Score:
ENST00000355341 (MANE Select)
0.120
ENST00000299173
0.120
ENST00000336455
0.120
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91205165 (EAS)
Genomes Max Group AF
0.87910704 (EAS)
Exomes Max Group AF
0.91402348 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40813728T>G , CM000677.2:g.40813728T>G | GRCh38 |
| NC_000015.9:g.41105926T>G , CM000677.1:g.41105926T>G | GRCh37 |
| NC_000015.8:g.38893218T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299173.14:c.922T>G | ENSP00000299173.10:p.Ser308Ala | |
| ENST00000336455.9:c.1096T>G | ENSP00000337824.5:p.Ser366Ala | |
| ENST00000355341.8:c.1126T>G MANE Select | ENSP00000347498.4:p.Ser376Ala | |
| ENST00000560078.1:n.2203T>G | ||
| ENST00000561768.5:c.901T>G | ||
| ENST00000563497.1:n.66T>G | ||
| ENST00000564258.5:c.601T>G | ENSP00000457617.1:p.Ser201Ala | |
| ENST00000566407.5:c.850T>G | ENSP00000456304.1:p.Ser284Ala | |
| ENST00000569057.5:c.831T>G | ||
| ENST00000570108.5:c.1057T>G | ENSP00000456223.1:p.Ser353Ala | |
| NM_001077268.1:c.1126T>G | NP_001070736.1:p.Ser376Ala | |
| NM_001258420.1:c.922T>G | NP_001245349.1:p.Ser308Ala | |
| NM_001258421.1:c.601T>G | NP_001245350.1:p.Ser201Ala | |
| NM_032850.4:c.1096T>G | NP_116239.3:p.Ser366Ala | |
| XM_024450092.1:c.469T>G | XP_024305860.1:p.Ser157Ala | |
| NM_001077268.2:c.1126T>G MANE Select | NP_001070736.1:p.Ser376Ala | |
| NM_001258420.2:c.922T>G | NP_001245349.1:p.Ser308Ala | |
| NM_001258421.2:c.601T>G | NP_001245350.1:p.Ser201Ala | |
| NM_032850.5:c.1096T>G | NP_116239.3:p.Ser366Ala |