Revel Score:
ENST00000372748 (MANE Select)
0.302
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40307478G>T , CM000663.2:g.40307478G>T | GRCh38 |
| NC_000001.10:g.40773150G>T , CM000663.1:g.40773150G>T | GRCh37 |
| NC_000001.9:g.40545737G>T | NCBI36 |
| NG_008031.1:g.14790C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372748.8:c.976C>A MANE Select | ENSP00000361834.3:p.Gln326Lys | |
| ENST00000372748.7:c.976C>A | ENSP00000361834.3:p.Gln326Lys | |
| ENST00000482722.5:n.1279C>A | ||
| NM_001852.3:c.976C>A | NP_001843.1:p.Gln326Lys | |
| XM_006710365.2:c.976C>A | XP_006710428.1:p.Gln326Lys | |
| XM_011540714.1:c.988C>A | XP_011539016.1:p.Gln330Lys | |
| XM_011540715.1:c.706C>A | XP_011539017.1:p.Gln236Lys | |
| XM_011540716.1:c.706C>A | XP_011539018.1:p.Gln236Lys | |
| XM_011540717.1:c.433C>A | XP_011539019.1:p.Gln145Lys | |
| XM_011540718.1:c.988C>A | XP_011539020.1:p.Gln330Lys | |
| XM_006710365.3:c.976C>A | XP_006710428.1:p.Gln326Lys | |
| XM_011540715.2:c.706C>A | XP_011539017.1:p.Gln236Lys | |
| XM_011540716.2:c.706C>A | XP_011539018.1:p.Gln236Lys | |
| XM_011540717.2:c.433C>A | XP_011539019.1:p.Gln145Lys | |
| XM_017000332.1:c.988C>A | XP_016855821.1:p.Gln330Lys | |
| XM_017000333.1:c.694C>A | XP_016855822.1:p.Gln232Lys | |
| NM_001852.4:c.976C>A MANE Select | NP_001843.1:p.Gln326Lys |