Revel Score:
ENST00000311895 (MANE Select)
0.182
ENST00000389138
0.182
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00010062 (SAS)
Exomes Max Group AF
0.00010712 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948070C>G , CM000678.2:g.13948070C>G | GRCh38 |
| NC_000016.9:g.14041927C>G , CM000678.1:g.14041927C>G | GRCh37 |
| NC_000016.8:g.13949428C>G | NCBI36 |
| NG_011442.1:g.32914C>G , LRG_463:g.32914C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2612C>G | ENSP00000507912.1:p.Ala871Gly | |
| ENST00000683962.1:c.*2168C>G | ENSP00000506854.1:n.*2168C>G | |
| ENST00000311895.8:c.2474C>G MANE Select | ENSP00000310520.7:p.Ala825Gly | |
| ENST00000311895.7:c.2474C>G | ENSP00000310520.7:p.Ala825Gly | |
| ENST00000389138.7:n.1751C>G | ||
| NM_005236.2:c.2474C>G , LRG_463t1:c.2474C>G | NP_005227.1:p.Ala825Gly | |
| XM_011522424.1:c.2612C>G | XP_011520726.1:p.Ala871Gly | |
| XM_011522425.1:c.1931C>G | XP_011520727.1:p.Ala644Gly | |
| XM_011522426.1:c.1685C>G | XP_011520728.1:p.Ala562Gly | |
| XM_011522427.1:c.1124C>G | XP_011520729.1:p.Ala375Gly | |
| XR_932805.1:n.2633C>G | ||
| XM_011522424.3:c.2612C>G | XP_011520726.1:p.Ala871Gly | |
| XM_017023043.2:c.1685C>G | XP_016878532.1:p.Ala562Gly | |
| NM_005236.3:c.2474C>G MANE Select | NP_005227.1:p.Ala825Gly |