Revel Score:
ENST00000256474 (MANE Select)
0.557
ENST00000345392
0.557
ENST00000450183
0.557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149790A>T , CM000665.2:g.10149790A>T | GRCh38 |
| NC_000003.11:g.10191474A>T , CM000665.1:g.10191474A>T | GRCh37 |
| NC_000003.10:g.10166474A>T | NCBI36 |
| NG_008212.3:g.13156A>T , LRG_322:g.13156A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*144A>T | ENSP00000512434.1:n.*144A>T | |
| ENST00000696143.1:c.603A>T | ENSP00000512435.1:n.603A>T | |
| ENST00000696153.1:c.578A>T | ENSP00000512444.1:p.Tyr193Phe | |
| ENST00000256474.3:c.467A>T MANE Select | ENSP00000256474.3:p.Tyr156Phe | |
| ENST00000256474.2:c.467A>T | ENSP00000256474.2:p.Tyr156Phe | |
| ENST00000345392.2:c.344A>T | ENSP00000344757.2:p.Tyr115Phe | |
| ENST00000477538.1:n.603A>T | ||
| NM_000551.3:c.467A>T , LRG_322t1:c.467A>T | NP_000542.1:p.Tyr156Phe | |
| NM_198156.2:c.344A>T | NP_937799.1:p.Tyr115Phe | |
| NM_001354723.1:c.*21A>T | NP_001341652.1:n.*21A>T | |
| NM_000551.4:c.467A>T MANE Select | NP_000542.1:p.Tyr156Phe | |
| NM_001354723.2:c.*21A>T | NP_001341652.1:n.*21A>T | |
| NM_198156.3:c.344A>T | NP_937799.1:p.Tyr115Phe |