Revel Score:
ENST00000355112 (MANE Select)
0.229
ENST00000536925
0.229
ENST00000543977
0.229
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90782869C>A , CM000677.2:g.90782869C>A | GRCh38 |
| NC_000015.9:g.91326099C>A , CM000677.1:g.91326099C>A | GRCh37 |
| NC_000015.8:g.89127103C>A | NCBI36 |
| NG_007272.1:g.70498C>A , LRG_20:g.70498C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.2603C>A MANE Select | ENSP00000347232.3:p.Pro868Gln | |
| ENST00000648453.1:c.2603C>A | ENSP00000497646.1:p.Pro868Gln | |
| ENST00000680772.1:c.2603C>A | ENSP00000506117.1:p.Pro868Gln | |
| ENST00000681142.1:c.2603C>A | ENSP00000506682.1:p.Pro868Gln | |
| ENST00000355112.7:c.2603C>A | ENSP00000347232.3:p.Pro868Gln | |
| ENST00000559724.5:c.*1527C>A | ENSP00000453359.1:n.*1527C>A | |
| ENST00000560136.5:n.629C>A | ||
| ENST00000560509.5:c.2603C>A | ENSP00000454158.1:p.Pro868Gln | |
| NM_000057.3:c.2603C>A | NP_000048.1:p.Pro868Gln | |
| NM_001287246.1:c.2603C>A | NP_001274175.1:p.Pro868Gln | |
| NM_001287247.1:c.2603C>A | NP_001274176.1:p.Pro868Gln | |
| NM_001287248.1:c.1478C>A | NP_001274177.1:p.Pro493Gln | |
| XM_006720632.2:c.641C>A | XP_006720695.1:p.Pro214Gln | |
| XM_011521881.1:c.1289C>A | XP_011520183.1:p.Pro430Gln | |
| XM_011521881.2:c.1289C>A | XP_011520183.1:p.Pro430Gln | |
| NM_000057.4:c.2603C>A MANE Select | NP_000048.1:p.Pro868Gln | |
| NM_001287246.2:c.2603C>A | NP_001274175.1:p.Pro868Gln | |
| NM_001287247.2:c.2603C>A | NP_001274176.1:p.Pro868Gln | |
| NM_001287248.2:c.1478C>A | NP_001274177.1:p.Pro493Gln |