Revel Score:
ENST00000378842 (MANE Select)
0.879
ENST00000556278
0.879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34646786G>T , CM000671.2:g.34646786G>T | GRCh38 |
| NC_000009.11:g.34646783G>T , CM000671.1:g.34646783G>T | GRCh37 |
| NC_000009.10:g.34636783G>T | NCBI36 |
| NG_009029.1:g.5149G>T | |
| NG_009029.2:g.5198G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.82G>T | ENSP00000509954.1:p.Asp28Tyr | |
| ENST00000378842.8:c.82G>T MANE Select | ENSP00000368119.4:p.Asp28Tyr | |
| ENST00000378842.7:c.82G>T | ENSP00000368119.3:p.Asp28Tyr | |
| ENST00000450095.6:c.-121G>T | ENSP00000401956.2:n.-121G>T | |
| ENST00000465543.6:n.119G>T | ||
| ENST00000468099.2:n.154G>T | ||
| ENST00000472111.5:n.123G>T | ||
| ENST00000473506.6:c.82G>T | ENSP00000432839.2:p.Asp28Tyr | |
| ENST00000473529.5:n.129G>T | ||
| ENST00000487381.5:n.108G>T | ||
| ENST00000489643.6:n.112G>T | ||
| ENST00000554085.5:c.82G>T | ENSP00000450419.1:p.Asp28Tyr | |
| ENST00000554139.5:n.135G>T | ||
| ENST00000554550.5:c.82G>T | ENSP00000451435.1:p.Asp28Tyr | |
| ENST00000554638.5:n.106G>T | ||
| ENST00000554897.5:c.82G>T | ENSP00000450942.1:p.Asp28Tyr | |
| ENST00000554944.5:n.112G>T | ||
| ENST00000555020.5:n.112G>T | ||
| ENST00000555086.5:n.5G>T | ||
| ENST00000555214.5:n.91G>T | ||
| ENST00000556278.1:c.82G>T | ENSP00000451792.1:p.Asp28Tyr | |
| ENST00000556403.5:n.14G>T | ||
| ENST00000557541.5:n.142G>T | ||
| ENST00000605275.1:n.318G>T | ||
| NM_000155.3:c.82G>T | NP_000146.2:p.Asp28Tyr | |
| NM_001258332.1:c.-121G>T | NP_001245261.1:n.-121G>T | |
| NM_000155.4:c.82G>T MANE Select | NP_000146.2:p.Asp28Tyr | |
| NM_001258332.2:c.-121G>T | NP_001245261.1:n.-121G>T |