Revel Score:
ENST00000536044
0.910
ENST00000540413
0.910
ENST00000263431 (MANE Select)
0.910
ENST00000419486
0.910
ENST00000542049
0.910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53889905C>G , CM000681.2:g.53889905C>G | GRCh38 |
| NC_000019.9:g.54393159C>G , CM000681.1:g.54393159C>G | GRCh37 |
| NC_000019.8:g.59084971C>G | NCBI36 |
| NG_009114.1:g.12693C>G , LRG_669:g.12693C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.417C>G | ENSP00000507230.1:p.His139Gln | |
| ENST00000682268.1:n.715C>G | ||
| ENST00000682902.1:n.719C>G | ||
| ENST00000683513.1:c.417C>G | ENSP00000506809.1:p.His139Gln | |
| ENST00000263431.4:c.417C>G MANE Select | ENSP00000263431.3:p.His139Gln | |
| ENST00000263431.3:c.417C>G | ENSP00000263431.3:p.His139Gln | |
| ENST00000419486.1:c.33C>G | ENSP00000387919.2:p.His11Gln | |
| ENST00000474397.5:c.33C>G | ENSP00000471271.1:p.His11Gln | |
| ENST00000479081.5:c.33C>G | ENSP00000471544.1:p.His11Gln | |
| NM_001316329.1:c.417C>G | NP_001303258.1:p.His139Gln | |
| NM_002739.3:c.417C>G , LRG_669t1:c.417C>G | NP_002730.1:p.His139Gln | |
| NM_002739.4:c.417C>G | NP_002730.1:p.His139Gln | |
| NM_002739.5:c.417C>G MANE Select | NP_002730.1:p.His139Gln | |
| NM_001316329.2:c.417C>G | NP_001303258.1:p.His139Gln |