Revel Score:
ENST00000358127 (MANE Select)
0.651
ENST00000377849
0.651
ENST00000377853
0.651
ENST00000377852
0.651
ENST00000523241
0.651
ENST00000520154
0.651
ENST00000446742
0.651
ENST00000522003
0.651
ENST00000523145
0.651
ENST00000377847
0.651
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37002705C>T , CM000671.2:g.37002705C>T | GRCh38 |
| NC_000009.11:g.37002702C>T , CM000671.1:g.37002702C>T | GRCh37 |
| NC_000009.10:g.36992702C>T | NCBI36 |
| NG_033894.1:g.36775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358127.9:c.547G>A MANE Select | ENSP00000350844.4:p.Gly183Ser | |
| ENST00000377852.7:c.547G>A | ENSP00000367083.2:p.Gly183Ser | |
| ENST00000520154.6:c.547G>A | ENSP00000429291.1:p.Gly183Ser | |
| ENST00000523241.6:c.547G>A | ENSP00000429637.1:p.Gly183Ser | |
| ENST00000651199.1:n.281G>A | ||
| ENST00000651550.1:c.223G>A | ENSP00000498443.1:p.Gly75Ser | |
| ENST00000358127.8:c.547G>A | ENSP00000350844.4:p.Gly183Ser | |
| ENST00000377840.6:c.547G>A | ENSP00000367071.2:p.Gly183Ser | |
| ENST00000377847.6:c.547G>A | ENSP00000367078.2:p.Gly183Ser | |
| ENST00000377852.6:c.547G>A | ENSP00000367083.2:p.Gly183Ser | |
| ENST00000377853.6:c.547G>A | ENSP00000367084.2:p.Gly183Ser | |
| ENST00000414447.5:c.475+3768G>A | ENSP00000412188.1:n.475+3768G>A | |
| ENST00000446742.5:c.349G>A | ENSP00000404687.1:p.Gly117Ser | |
| ENST00000520154.5:c.547G>A | ENSP00000429291.1:p.Gly183Ser | |
| ENST00000520281.5:c.475+3768G>A | ENSP00000430773.1:n.475+3768G>A | |
| ENST00000522003.5:c.223G>A | ENSP00000429359.1:p.Gly75Ser | |
| ENST00000522932.1:c.48G>A | ||
| ENST00000523145.5:c.223G>A | ENSP00000429197.1:p.Gly75Ser | |
| ENST00000523241.5:c.547G>A | ENSP00000429637.1:p.Gly183Ser | |
| ENST00000523493.5:c.547G>A | ENSP00000431038.1:p.Gly183Ser | |
| NM_001280547.1:c.547G>A | NP_001267476.1:p.Gly183Ser | |
| NM_001280548.1:c.547G>A | NP_001267477.1:p.Gly183Ser | |
| NM_001280549.1:c.547G>A | NP_001267478.1:p.Gly183Ser | |
| NM_001280550.1:c.547G>A | NP_001267479.1:p.Gly183Ser | |
| NM_001280551.1:c.223G>A | NP_001267480.1:p.Gly75Ser | |
| NM_001280552.1:c.547G>A | NP_001267481.1:p.Gly183Ser | |
| NM_001280553.1:c.475+3768G>A | NP_001267482.1:n.475+3768G>A | |
| NM_001280554.1:c.475+3768G>A | NP_001267483.1:n.475+3768G>A | |
| NM_001280555.1:c.349G>A | NP_001267484.1:p.Gly117Ser | |
| NM_001280556.1:c.223G>A | NP_001267485.1:p.Gly75Ser | |
| NM_016734.2:c.547G>A | NP_057953.1:p.Gly183Ser | |
| NR_103999.1:n.995G>A | ||
| NR_104000.1:n.995G>A | ||
| XM_005251481.3:c.544G>A | XP_005251538.1:p.Gly182Ser | |
| XM_011517896.1:c.547G>A | XP_011516198.1:p.Gly183Ser | |
| XM_011517897.1:c.544G>A | XP_011516199.1:p.Gly182Ser | |
| XR_001746663.1:n.9C>T | ||
| XR_001746664.1:n.9C>T | ||
| NM_016734.3:c.547G>A MANE Select | NP_057953.1:p.Gly183Ser | |
| NM_001280547.2:c.547G>A | NP_001267476.1:p.Gly183Ser | |
| NM_001280548.2:c.547G>A | NP_001267477.1:p.Gly183Ser | |
| NM_001280549.2:c.547G>A | NP_001267478.1:p.Gly183Ser | |
| NM_001280550.2:c.547G>A | NP_001267479.1:p.Gly183Ser | |
| NM_001280551.2:c.223G>A | NP_001267480.1:p.Gly75Ser | |
| NM_001280552.2:c.547G>A | NP_001267481.1:p.Gly183Ser | |
| NM_001280553.2:c.475+3768G>A | NP_001267482.1:n.475+3768G>A | |
| NM_001280554.2:c.475+3768G>A | NP_001267483.1:n.475+3768G>A | |
| NM_001280555.2:c.349G>A | NP_001267484.1:p.Gly117Ser | |
| NM_001280556.2:c.223G>A | NP_001267485.1:p.Gly75Ser | |
| NR_103999.2:n.784G>A | ||
| NR_104000.2:n.784G>A |