Revel Score:
ENST00000372725
0.160
ENST00000372724
0.160
ENST00000287239 (MANE Select)
0.160
ENST00000372714
0.160
ENST00000372711
0.160
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.75022145G>A , CM000672.2:g.75022145G>A | GRCh38 |
| NC_000010.10:g.76781903G>A , CM000672.1:g.76781903G>A | GRCh37 |
| NC_000010.9:g.76451909G>A | NCBI36 |
| NG_032048.1:g.200733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287239.10:c.3286G>A MANE Select | ENSP00000287239.4:p.Glu1096Lys | |
| ENST00000372711.2:c.2737G>A | ENSP00000361796.1:p.Glu913Lys | |
| ENST00000372714.6:c.2410G>A | ENSP00000361799.1:p.Glu804Lys | |
| ENST00000372724.6:c.2737G>A | ENSP00000361809.2:p.Glu913Lys | |
| ENST00000372725.6:c.2410G>A | ENSP00000361810.1:p.Glu804Lys | |
| ENST00000648048.1:c.3286G>A | ENSP00000497325.1:p.Glu1096Lys | |
| ENST00000648370.1:c.2737G>A | ENSP00000497804.1:p.Glu913Lys | |
| ENST00000648725.1:c.3286G>A | ENSP00000497841.1:p.Glu1096Lys | |
| ENST00000648793.1:n.3764G>A | ||
| ENST00000648892.1:c.2410G>A | ENSP00000497048.1:p.Glu804Lys | |
| ENST00000649006.1:c.2410G>A | ENSP00000498139.1:p.Glu804Lys | |
| ENST00000649305.1:n.1601G>A | ||
| ENST00000649375.1:c.2737G>A | ENSP00000498141.1:p.Glu913Lys | |
| ENST00000649463.1:c.3286G>A | ENSP00000497166.1:p.Glu1096Lys | |
| ENST00000650232.1:c.2221G>A | ENSP00000497570.1:p.Glu741Lys | |
| ENST00000650610.1:n.2331G>A | ||
| ENST00000287239.8:c.3286G>A | ENSP00000287239.4:p.Glu1096Lys | |
| ENST00000372711.1:c.2737G>A | ENSP00000361796.1:p.Glu913Lys | |
| ENST00000372714.5:c.2410G>A | ENSP00000361799.1:p.Glu804Lys | |
| ENST00000372724.5:c.2410G>A | ENSP00000361809.1:p.Glu804Lys | |
| ENST00000372725.5:c.2410G>A | ENSP00000361810.1:p.Glu804Lys | |
| ENST00000490365.1:n.5239G>A | ||
| NM_001256468.1:c.2737G>A | NP_001243397.1:p.Glu913Lys | |
| NM_001256469.1:c.2410G>A | NP_001243398.1:p.Glu804Lys | |
| NM_012330.3:c.3286G>A | NP_036462.2:p.Glu1096Lys | |
| XM_005269664.2:c.3286G>A | XP_005269721.1:p.Glu1096Lys | |
| XM_017016000.2:c.3286G>A | XP_016871489.1:p.Glu1096Lys | |
| XM_017016002.1:c.3286G>A | XP_016871491.1:p.Glu1096Lys | |
| XM_017016003.1:c.3286G>A | XP_016871492.1:p.Glu1096Lys | |
| XM_017016004.2:c.3124G>A | XP_016871493.1:p.Glu1042Lys | |
| XM_017016005.2:c.2737G>A | XP_016871494.1:p.Glu913Lys | |
| XM_017016006.2:c.2410G>A | XP_016871495.1:p.Glu804Lys | |
| XM_017016008.2:c.2410G>A | XP_016871497.1:p.Glu804Lys | |
| XM_017016009.1:c.2248G>A | XP_016871498.1:p.Glu750Lys | |
| NM_012330.4:c.3286G>A MANE Select | NP_036462.2:p.Glu1096Lys | |
| NM_001370132.1:c.2248G>A | NP_001357061.1:p.Glu750Lys | |
| NM_001370133.1:c.1597G>A | NP_001357062.1:p.Glu533Lys | |
| NM_001370134.1:c.1201G>A | NP_001357063.1:p.Glu401Lys | |
| NM_001370135.1:c.943G>A | NP_001357064.1:p.Glu315Lys | |
| NM_001370136.1:c.3286G>A | NP_001357065.1:p.Glu1096Lys | |
| NM_001370137.1:c.3286G>A | NP_001357066.1:p.Glu1096Lys | |
| NM_001370138.1:c.2737G>A | NP_001357067.1:p.Glu913Lys | |
| NM_001370139.1:c.2410G>A | NP_001357068.1:p.Glu804Lys | |
| NM_001370140.1:c.2410G>A | NP_001357069.1:p.Glu804Lys | |
| NM_001370141.1:c.2410G>A | NP_001357070.1:p.Glu804Lys | |
| NM_001370142.1:c.2410G>A | NP_001357071.1:p.Glu804Lys | |
| NM_001370143.1:c.2221G>A | NP_001357072.1:p.Glu741Lys | |
| NM_001370144.1:c.2221G>A | NP_001357073.1:p.Glu741Lys | |
| NM_001256468.2:c.2737G>A | NP_001243397.1:p.Glu913Lys | |
| NM_001256469.2:c.2410G>A | NP_001243398.1:p.Glu804Lys |