Revel Score:
ENST00000288774
0.899
ENST00000447513 (MANE Select)
0.899
ENST00000507596
0.899
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406566A>G , CM000663.2:g.2406566A>G | GRCh38 |
| NC_000001.10:g.2338005A>G , CM000663.1:g.2338005A>G | GRCh37 |
| NC_000001.9:g.2327865A>G | NCBI36 |
| NG_008342.1:g.11006T>C | |
| NG_016128.1:g.19792A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.890T>C | ENSP00000288774.3:p.Leu297Pro | |
| ENST00000447513.7:c.830T>C MANE Select | ENSP00000407922.2:p.Leu277Pro | |
| ENST00000650293.1:c.784T>C | ||
| ENST00000288774.7:c.890T>C | ENSP00000288774.3:p.Leu297Pro | |
| ENST00000447513.6:c.830T>C | ENSP00000407922.2:p.Leu277Pro | |
| ENST00000507596.5:c.830T>C | ENSP00000424291.1:p.Leu277Pro | |
| ENST00000510434.1:c.*196T>C | ENSP00000423051.1:n.*196T>C | |
| NM_002617.3:c.830T>C | NP_002608.1:p.Leu277Pro | |
| NM_153818.1:c.890T>C | NP_722540.1:p.Leu297Pro | |
| XM_011541573.1:c.887T>C | XP_011539875.1:p.Leu296Pro | |
| XM_011541574.1:c.455T>C | XP_011539876.1:p.Leu152Pro | |
| XM_011541575.1:c.455T>C | XP_011539877.1:p.Leu152Pro | |
| XR_946666.1:n.946T>C | ||
| XR_946666.2:n.895T>C | ||
| NM_001374425.1:c.887T>C | NP_001361354.1:p.Leu296Pro | |
| NM_001374426.1:c.455T>C | NP_001361355.1:p.Leu152Pro | |
| NM_001374427.1:c.398T>C | NP_001361356.1:p.Leu133Pro | |
| NM_002617.4:c.830T>C MANE Select | NP_002608.1:p.Leu277Pro | |
| NM_153818.2:c.890T>C | NP_722540.1:p.Leu297Pro | |
| NR_164636.1:n.945T>C |