Revel Score:
ENST00000438257 (MANE Select)
0.081
ENST00000557010
0.081
ENST00000422005
0.081
ENST00000555750
0.081
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002126 (SAS)
Exomes Max Group AF
0.00002217 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80203242G>A , CM000676.2:g.80203242G>A | GRCh38 |
| NC_000014.8:g.80669585G>A , CM000676.1:g.80669585G>A | GRCh37 |
| NC_000014.7:g.79739338G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438257.9:c.269C>T MANE Select | ENSP00000405854.5:p.Ser90Phe | |
| ENST00000555750.2:c.*107C>T | ENSP00000450980.2:n.*107C>T | |
| ENST00000422005.7:c.*70C>T | ENSP00000411438.4:n.*70C>T | |
| ENST00000438257.8:c.269C>T | ENSP00000405854.4:p.Ser90Phe | |
| ENST00000555750.1:c.377C>T | ENSP00000450980.1:p.Ser126Phe | |
| ENST00000555844.1:c.353C>T | ||
| ENST00000556811.5:c.245C>T | ||
| ENST00000557010.5:c.269C>T | ENSP00000451419.1:p.Ser90Phe | |
| ENST00000557125.1:c.49-156C>T | ENSP00000450547.1:n.49-156C>T | |
| NM_000793.5:c.269C>T | NP_000784.2:p.Ser90Phe | |
| NM_001007023.3:c.377C>T | NP_001007024.1:p.Ser126Phe | |
| NM_001242502.1:c.*70C>T | NP_001229431.1:n.*70C>T | |
| NM_001242503.1:c.*70C>T | NP_001229432.1:n.*70C>T | |
| NM_013989.4:c.269C>T | NP_054644.1:p.Ser90Phe | |
| NM_000793.6:c.269C>T | NP_000784.3:p.Ser90Phe | |
| NM_001324462.2:c.269C>T | NP_001311391.2:p.Ser90Phe | |
| NM_001366496.1:c.269C>T | NP_001353425.1:p.Ser90Phe | |
| NM_013989.5:c.269C>T MANE Select | NP_054644.1:p.Ser90Phe | |
| NR_158990.1:n.409C>T | ||
| NR_158991.1:n.543C>T |