Revel Score:
ENST00000256474 (MANE Select)
0.827
ENST00000345392
0.827
ENST00000450183
0.827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149814A>G , CM000665.2:g.10149814A>G | GRCh38 |
| NC_000003.11:g.10191498A>G , CM000665.1:g.10191498A>G | GRCh37 |
| NC_000003.10:g.10166498A>G | NCBI36 |
| NG_008212.3:g.13180A>G , LRG_322:g.13180A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*168A>G | ENSP00000512434.1:n.*168A>G | |
| ENST00000696143.1:c.627A>G | ENSP00000512435.1:n.627A>G | |
| ENST00000696153.1:c.602A>G | ENSP00000512444.1:p.Gln201Arg | |
| ENST00000256474.3:c.491A>G MANE Select | ENSP00000256474.3:p.Gln164Arg | |
| ENST00000256474.2:c.491A>G | ENSP00000256474.2:p.Gln164Arg | |
| ENST00000345392.2:c.368A>G | ENSP00000344757.2:p.Gln123Arg | |
| ENST00000477538.1:n.627A>G | ||
| NM_000551.3:c.491A>G , LRG_322t1:c.491A>G | NP_000542.1:p.Gln164Arg | |
| NM_198156.2:c.368A>G | NP_937799.1:p.Gln123Arg | |
| NM_001354723.1:c.*45A>G | NP_001341652.1:n.*45A>G | |
| NM_000551.4:c.491A>G MANE Select | NP_000542.1:p.Gln164Arg | |
| NM_001354723.2:c.*45A>G | NP_001341652.1:n.*45A>G | |
| NM_198156.3:c.368A>G | NP_937799.1:p.Gln123Arg |