gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948120G>T , CM000678.2:g.13948120G>T | GRCh38 |
| NC_000016.9:g.14041977G>T , CM000678.1:g.14041977G>T | GRCh37 |
| NC_000016.8:g.13949478G>T | NCBI36 |
| NG_011442.1:g.32964G>T , LRG_463:g.32964G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2662G>T | ENSP00000507912.1:p.Glu888Ter | |
| ENST00000683962.1:c.*2218G>T | ENSP00000506854.1:n.*2218G>T | |
| ENST00000311895.8:c.2524G>T MANE Select | ENSP00000310520.7:p.Glu842Ter | |
| ENST00000311895.7:c.2524G>T | ENSP00000310520.7:p.Glu842Ter | |
| ENST00000389138.7:n.1801G>T | ||
| NM_005236.2:c.2524G>T , LRG_463t1:c.2524G>T | NP_005227.1:p.Glu842Ter | |
| XM_011522424.1:c.2662G>T | XP_011520726.1:p.Glu888Ter | |
| XM_011522425.1:c.1981G>T | XP_011520727.1:p.Glu661Ter | |
| XM_011522426.1:c.1735G>T | XP_011520728.1:p.Glu579Ter | |
| XM_011522427.1:c.1174G>T | XP_011520729.1:p.Glu392Ter | |
| XR_932805.1:n.2683G>T | ||
| XM_011522424.3:c.2662G>T | XP_011520726.1:p.Glu888Ter | |
| XM_017023043.2:c.1735G>T | XP_016878532.1:p.Glu579Ter | |
| NM_005236.3:c.2524G>T MANE Select | NP_005227.1:p.Glu842Ter |