Revel Score:
ENST00000407106
0.942
ENST00000261755
0.942
ENST00000539156
0.942
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80173052C>A , CM000677.2:g.80173052C>A | GRCh38 |
| NC_000015.9:g.80465394C>A , CM000677.1:g.80465394C>A | GRCh37 |
| NC_000015.8:g.78252449C>A | NCBI36 |
| NG_012833.1:g.25054C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.834C>A | ||
| ENST00000561421.6:c.745C>A MANE Select | ENSP00000453347.2:p.Pro249Thr | |
| ENST00000646551.1:n.2359C>A | ||
| ENST00000261755.9:c.745C>A | ENSP00000261755.5:p.Pro249Thr | |
| ENST00000407106.5:c.745C>A | ENSP00000385080.1:p.Pro249Thr | |
| ENST00000539156.5:c.535C>A | ENSP00000454271.1:p.Pro179Thr | |
| ENST00000558627.1:n.673C>A | ||
| ENST00000559542.1:n.81C>A | ||
| ENST00000561421.5:c.745C>A | ENSP00000453347.1:p.Pro249Thr | |
| NM_000137.2:c.745C>A | NP_000128.1:p.Pro249Thr | |
| XM_024449872.1:c.745C>A | XP_024305640.1:p.Pro249Thr | |
| NM_000137.4:c.745C>A MANE Select | NP_000128.1:p.Pro249Thr | |
| NM_001374377.1:c.745C>A | NP_001361306.1:p.Pro249Thr | |
| NM_001374380.1:c.745C>A | NP_001361309.1:p.Pro249Thr |