Revel Score:
ENST00000503569
0.916
ENST00000226760 (MANE Select)
0.916
ENST00000540337
0.916
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302281T>C , CM000666.2:g.6302281T>C | GRCh38 |
| NC_000004.11:g.6304008T>C , CM000666.1:g.6304008T>C | GRCh37 |
| NC_000004.10:g.6354909T>C | NCBI36 |
| NG_011700.1:g.37432T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2522T>C | ENSP00000507852.1:p.Leu841Pro | |
| ENST00000683395.1:c.2463T>C | ||
| ENST00000684087.1:c.2486T>C | ENSP00000506978.1:p.Leu829Pro | |
| ENST00000506362.2:c.2237T>C | ENSP00000424103.2:p.Leu746Pro | |
| ENST00000673991.1:c.2522T>C | ENSP00000501033.1:p.Leu841Pro | |
| ENST00000226760.5:c.2486T>C MANE Select | ENSP00000226760.1:p.Leu829Pro | |
| ENST00000503569.5:c.2486T>C | ENSP00000423337.1:p.Leu829Pro | |
| ENST00000507765.1:n.2671T>C | ||
| NM_001145853.1:c.2486T>C | NP_001139325.1:p.Leu829Pro | |
| NM_006005.3:c.2486T>C MANE Select | NP_005996.2:p.Leu829Pro | |
| XM_017008586.1:c.2495T>C | XP_016864075.1:p.Leu832Pro |