Revel Score:
ENST00000311895 (MANE Select)
0.062
ENST00000389138
0.062
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948237C>G , CM000678.2:g.13948237C>G | GRCh38 |
| NC_000016.9:g.14042094C>G , CM000678.1:g.14042094C>G | GRCh37 |
| NC_000016.8:g.13949595C>G | NCBI36 |
| NG_011442.1:g.33081C>G , LRG_463:g.33081C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2779C>G | ENSP00000507912.1:p.Gln927Glu | |
| ENST00000683962.1:c.*2335C>G | ENSP00000506854.1:n.*2335C>G | |
| ENST00000311895.8:c.2641C>G MANE Select | ENSP00000310520.7:p.Gln881Glu | |
| ENST00000311895.7:c.2641C>G | ENSP00000310520.7:p.Gln881Glu | |
| ENST00000389138.7:n.1918C>G | ||
| NM_005236.2:c.2641C>G , LRG_463t1:c.2641C>G | NP_005227.1:p.Gln881Glu | |
| XM_011522424.1:c.2779C>G | XP_011520726.1:p.Gln927Glu | |
| XM_011522425.1:c.2098C>G | XP_011520727.1:p.Gln700Glu | |
| XM_011522426.1:c.1852C>G | XP_011520728.1:p.Gln618Glu | |
| XM_011522427.1:c.1291C>G | XP_011520729.1:p.Gln431Glu | |
| XR_932805.1:n.2800C>G | ||
| XM_011522424.3:c.2779C>G | XP_011520726.1:p.Gln927Glu | |
| XM_017023043.2:c.1852C>G | XP_016878532.1:p.Gln618Glu | |
| NM_005236.3:c.2641C>G MANE Select | NP_005227.1:p.Gln881Glu |