Revel Score:
ENST00000253408
0.688
ENST00000421021
0.688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44908128G>A , CM000679.2:g.44908128G>A | GRCh38 |
| NC_000017.10:g.42985496G>A , CM000679.1:g.42985496G>A | GRCh37 |
| NC_000017.9:g.40341022G>A | NCBI36 |
| NG_008401.1:g.12419C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1313C>T | ENSP00000253408.5:p.Ser438Phe | |
| ENST00000253408.10:c.1313C>T | ENSP00000253408.5:p.Ser438Phe | |
| ENST00000441312.2:n.46C>T | ||
| ENST00000585543.6:n.346C>T | ||
| ENST00000586125.2:c.128C>T | ENSP00000467397.2:p.Ser43Phe | |
| ENST00000588735.3:c.1193C>T MANE Select | ENSP00000466598.2:p.Ser398Phe | |
| ENST00000589701.2:n.2100C>T | ||
| ENST00000591880.2:c.292C>T | ||
| ENST00000592065.2:n.561C>T | ||
| ENST00000638304.1:c.112C>T | ||
| ENST00000638400.1:c.28C>T | ||
| ENST00000638488.1:n.657C>T | ||
| ENST00000638618.1:c.848C>T | ENSP00000492832.1:p.Ser283Phe | |
| ENST00000638921.1:n.120C>T | ||
| ENST00000639042.1:c.165C>T | ||
| ENST00000639277.1:c.1193C>T | ENSP00000492432.1:p.Ser398Phe | |
| ENST00000639369.1:c.43C>T | ||
| ENST00000640859.1:c.7C>T | ||
| ENST00000253408.9:c.1193C>T | ENSP00000253408.4:p.Ser398Phe | |
| ENST00000585543.5:n.346C>T | ||
| ENST00000586125.1:c.164C>T | ENSP00000467397.1:p.Ser55Phe | |
| ENST00000588735.1:c.83-12C>T | ENSP00000466598.1:n.83-12C>T | |
| ENST00000589701.1:n.95C>T | ||
| ENST00000591880.1:c.59C>T | ENSP00000467530.1:p.Ser20Phe | |
| ENST00000592706.5:n.65C>T | ||
| NM_002055.4:c.1193C>T | NP_002046.1:p.Ser398Phe | |
| NM_001363846.1:c.1313C>T | NP_001350775.1:p.Ser438Phe | |
| XM_024450690.1:c.1517C>T | XP_024306458.1:p.Ser506Phe | |
| XM_024450692.1:c.1397C>T | XP_024306460.1:p.Ser466Phe | |
| NM_002055.5:c.1193C>T MANE Select | NP_002046.1:p.Ser398Phe | |
| NM_001363846.2:c.1313C>T | NP_001350775.1:p.Ser438Phe |