Revel Score:
ENST00000256474 (MANE Select)
0.907
ENST00000450183
0.907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146535A>T , CM000665.2:g.10146535A>T | GRCh38 |
| NC_000003.11:g.10188219A>T , CM000665.1:g.10188219A>T | GRCh37 |
| NC_000003.10:g.10163219A>T | NCBI36 |
| NG_008212.3:g.9901A>T , LRG_322:g.9901A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*39A>T | ENSP00000512434.1:n.*39A>T | |
| ENST00000696143.1:c.600-3252A>T | ENSP00000512435.1:n.600-3252A>T | |
| ENST00000696153.1:c.362A>T | ENSP00000512444.1:p.Asp121Val | |
| ENST00000256474.3:c.362A>T MANE Select | ENSP00000256474.3:p.Asp121Val | |
| ENST00000256474.2:c.362A>T | ENSP00000256474.2:p.Asp121Val | |
| ENST00000345392.2:c.341-3252A>T | ENSP00000344757.2:n.341-3252A>T | |
| ENST00000477538.1:n.498A>T | ||
| NM_000551.3:c.362A>T , LRG_322t1:c.362A>T | NP_000542.1:p.Asp121Val | |
| NM_198156.2:c.341-3252A>T | NP_937799.1:n.341-3252A>T | |
| XM_011534078.1:c.*39A>T | XP_011532380.1:n.*39A>T | |
| NM_001354723.1:c.*18-3252A>T | NP_001341652.1:n.*18-3252A>T | |
| NM_000551.4:c.362A>T MANE Select | NP_000542.1:p.Asp121Val | |
| NM_001354723.2:c.*18-3252A>T | NP_001341652.1:n.*18-3252A>T | |
| NM_198156.3:c.341-3252A>T | NP_937799.1:n.341-3252A>T |