Revel Score:
ENST00000379079
0.510
ENST00000332351
0.510
ENST00000530998
0.510
ENST00000452863 (MANE Select)
0.510
ENST00000448076
0.510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392755C>T , CM000673.2:g.32392755C>T | GRCh38 |
| NC_000011.9:g.32414301C>T , CM000673.1:g.32414301C>T | GRCh37 |
| NC_000011.8:g.32370877C>T | NCBI36 |
| NG_009272.1:g.47787G>A , LRG_525:g.47787G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1214G>A | ENSP00000331327.5:p.Gly405Asp | |
| ENST00000379077.9:c.*449G>A | ENSP00000368368.5:n.*449G>A | |
| ENST00000379079.8:c.614G>A | ENSP00000368370.2:p.Gly205Asp | |
| ENST00000448076.9:c.1265G>A | ENSP00000413452.5:p.Gly422Asp | |
| ENST00000452863.10:c.1265G>A MANE Select | ENSP00000415516.5:p.Gly422Asp | |
| ENST00000526685.2:n.719G>A | ||
| ENST00000639563.3:c.1214G>A | ENSP00000492269.3:p.Gly405Asp | |
| ENST00000639907.2:n.408G>A | ||
| ENST00000640146.2:c.590G>A | ENSP00000491984.2:p.Gly197Asp | |
| ENST00000650745.1:n.474G>A | ||
| ENST00000650861.1:n.1846G>A | ||
| ENST00000651459.1:c.36G>A | ||
| ENST00000651533.1:n.311G>A | ||
| ENST00000651668.1:n.202G>A | ||
| ENST00000651794.1:n.1108G>A | ||
| ENST00000651819.1:n.190G>A | ||
| ENST00000652579.1:n.525G>A | ||
| ENST00000652724.1:n.455G>A | ||
| ENST00000332351.7:c.1250G>A | ENSP00000331327.3:p.Gly417Asp | |
| ENST00000379077.7:c.*449G>A | ENSP00000368368.3:n.*449G>A | |
| ENST00000379079.6:c.614G>A | ENSP00000368370.2:p.Gly205Asp | |
| ENST00000448076.7:c.1250G>A | ENSP00000413452.3:p.Gly417Asp | |
| ENST00000452863.7:c.1199G>A | ENSP00000415516.3:p.Gly400Asp | |
| ENST00000527882.5:c.321-691G>A | ||
| ENST00000530998.5:c.563G>A | ENSP00000435307.1:p.Gly188Asp | |
| NM_000378.4:c.1199G>A | NP_000369.3:p.Gly400Asp | |
| NM_001198551.1:c.614G>A , LRG_525t2:c.614G>A | NP_001185480.1:p.Gly205Asp | |
| NM_001198552.1:c.563G>A | NP_001185481.1:p.Gly188Asp | |
| NM_024424.3:c.1250G>A | NP_077742.2:p.Gly417Asp | |
| NM_024426.4:c.1250G>A | NP_077744.3:p.Gly417Asp | |
| NM_000378.5:c.1214G>A | NP_000369.4:p.Gly405Asp | |
| NM_024424.4:c.1265G>A | NP_077742.3:p.Gly422Asp | |
| NM_024426.5:c.1265G>A | NP_077744.4:p.Gly422Asp | |
| NM_001367854.1:c.77G>A | NP_001354783.1:p.Gly26Asp | |
| NR_160306.1:n.1597G>A | ||
| NM_000378.6:c.1214G>A | NP_000369.4:p.Gly405Asp | |
| NM_001198552.2:c.563G>A | NP_001185481.1:p.Gly188Asp | |
| NM_024424.5:c.1265G>A | NP_077742.3:p.Gly422Asp | |
| NM_024426.6:c.1265G>A MANE Select | NP_077744.4:p.Gly422Asp |