Revel Score:
ENST00000308418 (MANE Select)
0.918
ENST00000527610
0.918
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65720363G>A , CM000673.2:g.65720363G>A | GRCh38 |
| NC_000011.9:g.65487834G>A , CM000673.1:g.65487834G>A | GRCh37 |
| NC_000011.8:g.65244410G>A | NCBI36 |
| NG_008976.2:g.5576C>T , LRG_280:g.5576C>T | |
| NG_033057.1:g.13362G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.227C>T MANE Select | ENSP00000308193.5:p.Pro76Leu | |
| ENST00000528220.2:n.456C>T | ||
| ENST00000531596.6:c.227C>T | ENSP00000435717.2:p.Pro76Leu | |
| ENST00000534482.6:c.227C>T | ENSP00000432081.2:p.Pro76Leu | |
| ENST00000642430.1:n.120C>T | ||
| ENST00000643214.1:n.224C>T | ||
| ENST00000644142.1:c.227C>T | ENSP00000493695.1:p.Pro76Leu | |
| ENST00000644198.1:n.124C>T | ||
| ENST00000646597.1:n.164C>T | ||
| ENST00000308418.8:c.227C>T | ENSP00000308193.4:p.Pro76Leu | |
| ENST00000527610.1:c.227C>T | ENSP00000432897.1:p.Pro76Leu | |
| ENST00000528220.1:c.-23C>T | ENSP00000431555.1:n.-23C>T | |
| ENST00000530192.1:n.267C>T | ||
| ENST00000531596.5:c.208C>T | ||
| ENST00000533698.5:c.106C>T | ||
| ENST00000534482.5:c.121C>T | ||
| NM_032193.3:c.227C>T , LRG_280t1:c.227C>T | NP_115569.2:p.Pro76Leu | |
| NM_032193.4:c.227C>T MANE Select | NP_115569.2:p.Pro76Leu |