Revel Score:
ENST00000262493 (MANE Select)
0.995
ENST00000262494
0.995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56192574G>T , CM000678.2:g.56192574G>T | GRCh38 |
| NC_000016.9:g.56226486G>T , CM000678.1:g.56226486G>T | GRCh37 |
| NC_000016.8:g.54783987G>T | NCBI36 |
| NG_042800.1:g.6236G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.119G>T | ENSP00000262494.7:p.Gly40Val | |
| ENST00000262493.12:c.119G>T MANE Select | ENSP00000262493.6:p.Gly40Val | |
| ENST00000262494.12:c.119G>T | ENSP00000262494.7:p.Gly40Val | |
| ENST00000563661.2:c.119G>T | ENSP00000492694.1:p.Gly40Val | |
| ENST00000569295.6:c.119G>T | ENSP00000492271.1:p.Gly40Val | |
| ENST00000570235.2:c.119G>T | ENSP00000477740.2:p.Gly40Val | |
| ENST00000638705.1:c.119G>T | ENSP00000491223.1:p.Gly40Val | |
| ENST00000638836.1:n.29G>T | ||
| ENST00000639251.1:n.20G>T | ||
| ENST00000639770.1:c.86G>T | ENSP00000491999.1:p.Gly29Val | |
| ENST00000639966.1:n.134G>T | ||
| ENST00000640893.1:c.119G>T | ENSP00000492677.1:p.Gly40Val | |
| ENST00000675160.1:c.119G>T | ENSP00000502403.1:p.Gly40Val | |
| ENST00000262493.10:c.119G>T | ENSP00000262493.6:p.Gly40Val | |
| ENST00000262494.11:c.119G>T | ENSP00000262494.7:p.Gly40Val | |
| ENST00000563661.1:n.116G>T | ||
| ENST00000565363.5:c.-380G>T | ENSP00000454728.1:n.-380G>T | |
| ENST00000569295.5:n.341G>T | ||
| ENST00000570235.1:c.119G>T | ENSP00000477740.1:p.Gly40Val | |
| NM_020988.2:c.119G>T | NP_066268.1:p.Gly40Val | |
| NM_138736.2:c.119G>T | NP_620073.2:p.Gly40Val | |
| XM_011523003.1:c.-380G>T | XP_011521305.1:n.-380G>T | |
| NM_020988.3:c.119G>T MANE Select | NP_066268.1:p.Gly40Val | |
| NM_138736.3:c.119G>T | NP_620073.2:p.Gly40Val |