Revel Score:
ENST00000358758 (MANE Select)
0.941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29814424G>T , CM000678.2:g.29814424G>T | GRCh38 |
| NC_000016.9:g.29825745G>T , CM000678.1:g.29825745G>T | GRCh37 |
| NC_000016.8:g.29733246G>T | NCBI36 |
| NG_032039.1:g.7337G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358758.12:c.971G>T MANE Select | ENSP00000351608.7:p.Gly324Val | |
| ENST00000567551.2:c.431G>T | ENSP00000489813.1:p.Gly144Val | |
| ENST00000636131.1:c.*147G>T | ENSP00000490390.1:n.*147G>T | |
| ENST00000636619.1:c.816G>T | ENSP00000489669.1:p.Gly272= | |
| ENST00000637064.1:c.971G>T | ENSP00000490826.1:p.Gly324Val | |
| ENST00000637290.1:c.*286G>T | ENSP00000490278.1:n.*286G>T | |
| ENST00000637403.1:c.813G>T | ENSP00000489782.1:p.Gly271= | |
| ENST00000637565.1:c.420G>T | ENSP00000490207.1:p.Gly140= | |
| ENST00000647876.1:c.*470G>T | ENSP00000498021.1:n.*470G>T | |
| ENST00000300797.7:c.*470G>T | ENSP00000300797.6:n.*470G>T | |
| ENST00000358758.11:c.971G>T | ENSP00000351608.7:p.Gly324Val | |
| ENST00000567659.3:c.971G>T | ENSP00000456226.1:p.Gly324Val | |
| ENST00000572820.2:c.971G>T | ENSP00000458291.2:p.Gly324Val | |
| ENST00000609618.2:c.960G>T | ENSP00000476774.2:p.Gly320= | |
| NM_001256442.1:c.971G>T | NP_001243371.1:p.Gly324Val | |
| NM_001256443.1:c.*470G>T | NP_001243372.1:n.*470G>T | |
| NM_145239.2:c.971G>T | NP_660282.2:p.Gly324Val | |
| XM_011545715.1:c.971G>T | XP_011544017.1:p.Gly324Val | |
| XM_011545716.1:c.971G>T | XP_011544018.1:p.Gly324Val | |
| XM_011545717.1:c.971G>T | XP_011544019.1:p.Gly324Val | |
| XM_011545718.1:c.971G>T | XP_011544020.1:p.Gly324Val | |
| XM_011545715.3:c.971G>T | XP_011544017.1:p.Gly324Val | |
| XM_017022887.2:c.971G>T | XP_016878376.1:p.Gly324Val | |
| XM_017022888.2:c.971G>T | XP_016878377.1:p.Gly324Val | |
| XM_017022889.2:c.971G>T | XP_016878378.1:p.Gly324Val | |
| NM_145239.3:c.971G>T MANE Select | NP_660282.2:p.Gly324Val | |
| NM_001256442.2:c.971G>T | NP_001243371.1:p.Gly324Val | |
| NM_001256443.2:c.*470G>T | NP_001243372.1:n.*470G>T |