Revel Score:
ENST00000448525
0.767
ENST00000262318
0.767
ENST00000382745 (MANE Select)
0.767
ENST00000428756
0.767
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1447498T>C , CM000678.2:g.1447498T>C | GRCh38 |
| NC_000016.9:g.1497499T>C , CM000678.1:g.1497499T>C | GRCh37 |
| NC_000016.8:g.1437500T>C | NCBI36 |
| NG_007567.1:g.32587A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.2144A>G | ENSP00000514703.1:p.Tyr715Cys | |
| ENST00000699948.1:c.*457A>G | ENSP00000514704.1:n.*457A>G | |
| ENST00000382745.9:c.2144A>G MANE Select | ENSP00000372193.4:p.Tyr715Cys | |
| ENST00000262318.12:c.2072A>G | ENSP00000262318.8:p.Tyr691Cys | |
| ENST00000382745.8:c.2144A>G | ENSP00000372193.4:p.Tyr715Cys | |
| ENST00000448525.5:c.2072A>G | ENSP00000410907.1:p.Tyr691Cys | |
| ENST00000563642.6:n.2213A>G | ||
| ENST00000565092.6:n.1179A>G | ||
| ENST00000567836.2:n.385A>G | ||
| NM_001114331.2:c.2072A>G | NP_001107803.1:p.Tyr691Cys | |
| NM_001287.5:c.2144A>G | NP_001278.1:p.Tyr715Cys | |
| XM_011522354.1:c.1970A>G | XP_011520656.1:p.Tyr657Cys | |
| NM_001287.6:c.2144A>G MANE Select | NP_001278.1:p.Tyr715Cys | |
| NM_001114331.3:c.2072A>G | NP_001107803.1:p.Tyr691Cys |