Revel Score:
ENST00000314067 (MANE Select)
0.085
ENST00000238628
0.085
ENST00000556742
0.085
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75985791A>G , CM000676.2:g.75985791A>G | GRCh38 |
| NC_000014.8:g.76452134A>G , CM000676.1:g.76452134A>G | GRCh37 |
| NC_000014.7:g.75521887A>G | NCBI36 |
| NG_011715.1:g.959T>C , LRG_399:g.959T>C | |
| NG_031957.1:g.5039A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314067.11:c.5A>G MANE Select | ENSP00000324177.6:p.Glu2Gly | |
| ENST00000679083.1:c.-242A>G | ENSP00000504736.1:n.-242A>G | |
| ENST00000238628.10:c.5A>G | ENSP00000238628.6:p.Glu2Gly | |
| ENST00000314067.10:c.5A>G | ENSP00000324177.6:p.Glu2Gly | |
| ENST00000542766.5:c.5A>G | ENSP00000440064.1:p.Glu2Gly | |
| ENST00000554026.5:n.12A>G | ||
| ENST00000555305.5:n.12A>G | ||
| ENST00000555370.5:c.5A>G | ENSP00000452051.1:p.Glu2Gly | |
| ENST00000555677.5:n.90-3094A>G | ||
| ENST00000556742.1:c.5A>G | ENSP00000451096.1:p.Glu2Gly | |
| NM_001102564.1:c.5A>G | NP_001096034.1:p.Glu2Gly | |
| NM_001255995.1:c.5A>G | NP_001242924.1:p.Glu2Gly | |
| NM_052873.2:c.5A>G | NP_443105.2:p.Glu2Gly | |
| NR_045664.1:n.39A>G | ||
| NR_045665.1:n.39A>G | ||
| NM_001102564.2:c.5A>G | NP_001096034.1:p.Glu2Gly | |
| NM_001255995.2:c.5A>G | NP_001242924.1:p.Glu2Gly | |
| NM_052873.3:c.5A>G | NP_443105.2:p.Glu2Gly | |
| NM_001102564.3:c.5A>G MANE Select | NP_001096034.1:p.Glu2Gly | |
| NM_001255995.3:c.5A>G | NP_001242924.1:p.Glu2Gly | |
| NR_045664.2:n.29A>G | ||
| NR_045665.2:n.29A>G |