gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00020846 (SAS)
Exomes Max Group AF
0.00022077 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8108522G>A , CM000679.2:g.8108522G>A | GRCh38 |
| NC_000017.10:g.8011840G>A , CM000679.1:g.8011840G>A | GRCh37 |
| NC_000017.9:g.7952565G>A | NCBI36 |
| NG_015807.1:g.15395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318227.4:c.1630C>T | ENSP00000314879.4:p.Gln544Ter | |
| ENST00000380149.6:c.1630C>T | ENSP00000369494.2:p.Gln544Ter | |
| ENST00000448843.7:c.1630C>T MANE Select | ENSP00000400581.2:p.Gln544Ter | |
| ENST00000318227.3:c.2026C>T | ENSP00000314879.3:p.Gln676Ter | |
| ENST00000380149.5:c.2098C>T | ENSP00000369494.1:p.Gln700Ter | |
| ENST00000448843.6:c.1630C>T | ENSP00000400581.2:p.Gln544Ter | |
| NM_001165960.1:c.2026C>T | NP_001159432.1:p.Gln676Ter | |
| NM_021628.2:c.1630C>T | NP_067641.2:p.Gln544Ter | |
| XM_017024921.2:c.1630C>T | XP_016880410.1:p.Gln544Ter | |
| XM_017024922.2:c.1562+652C>T | XP_016880411.1:n.1562+652C>T | |
| XM_017024924.2:c.*71C>T | XP_016880413.1:n.*71C>T | |
| XR_001752579.2:n.1835+652C>T | ||
| XR_001752580.2:n.1746+652C>T | ||
| NM_001369446.1:c.1627C>T | NP_001356375.1:p.Gln543Ter | |
| NM_021628.3:c.1630C>T MANE Select | NP_067641.2:p.Gln544Ter |