Revel Score:
ENST00000261304 (MANE Select)
0.888
ENST00000544807
0.888
ENST00000393569
0.888
ENST00000539620
0.888
ENST00000393568
0.888
ENST00000445021
0.888
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87965585G>C , CM000676.2:g.87965585G>C | GRCh38 |
| NC_000014.8:g.88431929G>C , CM000676.1:g.88431929G>C | GRCh37 |
| NC_000014.7:g.87501682G>C | NCBI36 |
| NG_011853.2:g.32979C>G | |
| NG_011853.3:g.32979C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.953C>G MANE Select | ENSP00000261304.2:p.Pro318Arg | |
| ENST00000261304.6:c.953C>G | ENSP00000261304.2:p.Pro318Arg | |
| ENST00000393568.8:c.884C>G | ENSP00000377198.4:p.Pro295Arg | |
| ENST00000393569.6:c.875C>G | ENSP00000377199.2:p.Pro292Arg | |
| ENST00000474294.6:n.943C>G | ||
| ENST00000544807.6:c.785C>G | ENSP00000437513.2:p.Pro262Arg | |
| ENST00000555000.5:c.320C>G | ENSP00000450472.1:p.Pro107Arg | |
| ENST00000557316.5:c.*351C>G | ENSP00000452314.1:n.*351C>G | |
| ENST00000557520.1:n.39C>G | ||
| ENST00000622264.4:c.943C>G | ||
| NM_000153.3:c.953C>G | NP_000144.2:p.Pro318Arg | |
| NM_001201401.1:c.884C>G | NP_001188330.1:p.Pro295Arg | |
| NM_001201402.1:c.875C>G | NP_001188331.1:p.Pro292Arg | |
| XM_011536618.1:c.785C>G | XP_011534920.1:p.Pro262Arg | |
| XM_011536618.2:c.785C>G | XP_011534920.1:p.Pro262Arg | |
| NM_000153.4:c.953C>G MANE Select | NP_000144.2:p.Pro318Arg | |
| NM_001201401.2:c.884C>G | NP_001188330.1:p.Pro295Arg | |
| NM_001201402.2:c.875C>G | NP_001188331.1:p.Pro292Arg |