Revel Score:
ENST00000357068 (MANE Select)
0.019
ENST00000457083
0.019
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18936232G>C , CM000684.2:g.18936232G>C | GRCh38 |
| NC_000022.10:g.18923745G>C , CM000684.1:g.18923745G>C | GRCh37 |
| NC_000022.9:g.17303745G>C | NCBI36 |
| NG_008226.2:g.5322C>G | |
| NG_008226.3:g.5322C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.56C>G MANE Select | ENSP00000349577.6:p.Pro19Arg | |
| ENST00000638240.1:c.514-3441G>C | ENSP00000492446.1:n.514-3441G>C | |
| ENST00000334029.6:c.-52+158C>G | ENSP00000334726.2:n.-52+158C>G | |
| ENST00000357068.10:c.56C>G | ENSP00000349577.6:p.Pro19Arg | |
| ENST00000420436.5:c.-97C>G | ENSP00000410805.1:n.-97C>G | |
| ENST00000457083.1:c.35C>G | ||
| ENST00000491604.5:n.64C>G | ||
| ENST00000610940.4:c.56C>G | ENSP00000480347.1:p.Pro19Arg | |
| NM_001195226.1:c.-52+158C>G | NP_001182155.1:n.-52+158C>G | |
| NM_016335.4:c.56C>G | NP_057419.4:p.Pro19Arg | |
| XM_011530278.1:c.-453C>G | XP_011528580.1:n.-453C>G | |
| XR_937876.1:n.89C>G | ||
| NM_001195226.2:c.-52+158C>G | NP_001182155.2:n.-52+158C>G | |
| NM_016335.5:c.56C>G | NP_057419.5:p.Pro19Arg | |
| NM_016335.6:c.56C>G MANE Select | NP_057419.5:p.Pro19Arg |