Revel Score:
ENST00000540693
0.088
ENST00000337343 (MANE Select)
0.088
ENST00000261491
0.088
ENST00000379274
0.088
ENST00000536612
0.088
ENST00000538674
0.088
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42219343G>T , CM000675.2:g.42219343G>T | GRCh38 |
| NC_000013.10:g.42793479G>T , CM000675.1:g.42793479G>T | GRCh37 |
| NC_000013.9:g.41691479G>T | NCBI36 |
| NG_029191.2:g.184308G>T | |
| NG_029191.3:g.184308G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337343.9:c.3327G>T MANE Select | ENSP00000337572.4:p.Glu1109Asp | |
| ENST00000261491.9:c.3327G>T | ENSP00000261491.4:p.Glu1109Asp | |
| ENST00000337343.8:c.3327G>T | ENSP00000337572.4:p.Glu1109Asp | |
| ENST00000379274.6:c.3327G>T | ENSP00000368576.3:p.Glu1109Asp | |
| ENST00000498255.6:n.3753G>T | ||
| ENST00000536612.3:c.2919G>T | ENSP00000445114.2:p.Glu973Asp | |
| ENST00000626247.2:c.*2416G>T | ENSP00000486329.1:n.*2416G>T | |
| ENST00000627777.2:c.2919G>T | ENSP00000486838.1:p.Glu973Asp | |
| ENST00000628433.2:c.2919G>T | ENSP00000485809.1:p.Glu973Asp | |
| NM_001204504.2:c.3327G>T | NP_001191433.1:p.Glu1109Asp | |
| NM_001204505.2:c.2919G>T | NP_001191434.1:p.Glu973Asp | |
| NM_001204506.2:c.2919G>T | NP_001191435.1:p.Glu973Asp | |
| NM_001297429.1:c.2592G>T | NP_001284358.1:p.Glu864Asp | |
| NM_152910.5:c.3327G>T | NP_690874.2:p.Glu1109Asp | |
| NM_178009.4:c.3327G>T | NP_821077.1:p.Glu1109Asp | |
| NR_123714.1:n.3051G>T | ||
| NR_123715.1:n.3859G>T | ||
| NM_001204505.3:c.2919G>T | NP_001191434.1:p.Glu973Asp | |
| NM_001204506.3:c.2919G>T | NP_001191435.1:p.Glu973Asp | |
| NM_001297429.2:c.2592G>T | NP_001284358.1:p.Glu864Asp | |
| NM_152910.6:c.3327G>T | NP_690874.2:p.Glu1109Asp | |
| NM_178009.5:c.3327G>T MANE Select | NP_821077.1:p.Glu1109Asp | |
| NR_123714.2:n.3035G>T | ||
| NR_123715.2:n.3843G>T | ||
| NM_001204504.3:c.3327G>T | NP_001191433.1:p.Glu1109Asp |