gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000954 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000836 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1221306C>T , CM000681.2:g.1221306C>T | GRCh38 |
| NC_000019.9:g.1221305C>T , CM000681.1:g.1221305C>T | GRCh37 |
| NC_000019.8:g.1172305C>T | NCBI36 |
| NG_007460.2:g.36900C>T , LRG_319:g.36900C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.828C>T | ENSP00000490268.2:p.Gly276= | |
| ENST00000585748.3:c.456C>T | ENSP00000477641.2:p.Gly152= | |
| ENST00000585851.2:c.654C>T | ENSP00000467912.2:p.Gly218= | |
| ENST00000326873.12:c.828C>T MANE Select | ENSP00000324856.6:p.Gly276= | |
| ENST00000652231.1:c.828C>T | ENSP00000498804.1:p.Gly276= | |
| ENST00000326873.11:c.828C>T | ENSP00000324856.6:p.Gly276= | |
| ENST00000586243.5:c.828C>T | ENSP00000467240.2:p.Gly276= | |
| ENST00000586358.5:n.726C>T | ||
| ENST00000589152.5:n.918C>T | ||
| ENST00000591133.2:n.799C>T | ||
| NM_000455.4:c.828C>T , LRG_319t1:c.828C>T | NP_000446.1:p.Gly276= | |
| XM_005259617.1:c.828C>T | XP_005259674.1:p.Gly276= | |
| XM_005259618.3:c.828C>T | XP_005259675.1:p.Gly276= | |
| XM_011528209.1:c.606C>T | XP_011526511.1:p.Gly202= | |
| XR_936204.1:n.1453C>T | ||
| XM_005259617.3:c.828C>T | XP_005259674.1:p.Gly276= | |
| XM_011528209.2:c.606C>T | XP_011526511.1:p.Gly202= | |
| XR_001753738.2:n.1453C>T | ||
| XR_001753739.1:n.1453C>T | ||
| XR_001753740.2:n.1453C>T | ||
| NM_000455.5:c.828C>T MANE Select | NP_000446.1:p.Gly276= |