Revel Score:
ENST00000373960 (MANE Select)
0.909
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421340A>G , CM000664.2:g.219421340A>G | GRCh38 |
| NC_000002.11:g.220286062A>G , CM000664.1:g.220286062A>G | GRCh37 |
| NC_000002.10:g.219994306A>G | NCBI36 |
| NG_008043.1:g.7964A>G , LRG_380:g.7964A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.498A>G | ||
| ENST00000683013.1:n.412A>G | ||
| ENST00000373960.4:c.1024A>G MANE Select | ENSP00000363071.3:p.Asn342Asp | |
| ENST00000373960.3:c.1024A>G | ENSP00000363071.3:p.Asn342Asp | |
| ENST00000477226.5:n.496A>G | ||
| ENST00000492726.1:n.419A>G | ||
| NM_001927.3:c.1024A>G , LRG_380t1:c.1024A>G | NP_001918.3:p.Asn342Asp | |
| NM_001927.4:c.1024A>G MANE Select | NP_001918.3:p.Asn342Asp | |
| NM_001382708.1:c.1021A>G | NP_001369637.1:p.Asn341Asp | |
| NM_001382709.1:c.736-144A>G | NP_001369638.1:n.736-144A>G | |
| NM_001382710.1:c.1024-69A>G | NP_001369639.1:n.1024-69A>G | |
| NM_001382711.1:c.1024-21A>G | NP_001369640.1:n.1024-21A>G | |
| NM_001382712.1:c.1024A>G | NP_001369641.1:p.Asn342Asp | |
| NM_001382713.1:c.754A>G | NP_001369642.1:p.Asn252Asp |