Revel Score:
ENST00000428106
0.021
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45013663C>T , CM000663.2:g.45013663C>T | GRCh38 |
| NC_000001.10:g.45479335C>T , CM000663.1:g.45479335C>T | GRCh37 |
| NC_000001.9:g.45251922C>T | NCBI36 |
| NG_007122.2:g.6506C>T | |
| NG_033058.1:g.2693G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246337.9:c.346C>T MANE Select | ENSP00000246337.4:p.Gln116Ter | |
| ENST00000434478.6:c.400C>T | ENSP00000404489.2:p.Gln134Ter | |
| ENST00000491773.6:c.241C>T | ENSP00000498551.1:p.Gln81Ter | |
| ENST00000636293.1:c.346C>T | ENSP00000490710.1:p.Gln116Ter | |
| ENST00000636836.1:c.346C>T | ENSP00000490594.1:p.Gln116Ter | |
| ENST00000650713.1:c.241C>T | ENSP00000499014.1:p.Gln81Ter | |
| ENST00000651476.1:c.241C>T | ENSP00000498668.1:p.Gln81Ter | |
| ENST00000652165.1:c.241C>T | ENSP00000498295.1:p.Gln81Ter | |
| ENST00000652287.1:c.283C>T | ENSP00000498413.1:p.Gln95Ter | |
| ENST00000652514.1:c.307C>T | ENSP00000498635.1:n.307C>T | |
| ENST00000246337.8:c.346C>T | ENSP00000246337.4:p.Gln116Ter | |
| ENST00000428106.1:c.326C>T | ||
| ENST00000434478.5:c.283C>T | ENSP00000404489.1:p.Gln95Ter | |
| ENST00000460334.5:n.373C>T | ||
| ENST00000460906.5:n.363C>T | ||
| ENST00000462688.5:n.473C>T | ||
| ENST00000463092.5:n.742C>T | ||
| ENST00000469548.5:n.542C>T | ||
| ENST00000473012.1:n.393C>T | ||
| ENST00000478467.5:n.349C>T | ||
| ENST00000486699.5:n.466C>T | ||
| ENST00000490385.5:n.420C>T | ||
| ENST00000491300.5:n.465C>T | ||
| ENST00000491773.5:n.500C>T | ||
| ENST00000494399.5:n.486C>T | ||
| ENST00000496439.1:n.325C>T | ||
| NM_000374.4:c.346C>T | NP_000365.3:p.Gln116Ter | |
| NR_036510.1:n.529C>T | ||
| XM_005271169.1:c.130C>T | XP_005271226.1:p.Gln44Ter | |
| XM_005271170.1:c.130C>T | XP_005271227.1:p.Gln44Ter | |
| XM_011542080.1:c.283C>T | XP_011540382.1:p.Gln95Ter | |
| XM_011542081.1:c.178C>T | XP_011540383.1:p.Gln60Ter | |
| NM_000374.5:c.346C>T MANE Select | NP_000365.3:p.Gln116Ter | |
| NR_158184.1:n.427C>T | ||
| NR_158185.1:n.377C>T | ||
| NR_036510.2:n.408C>T |