gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82750725C>T , CM000679.2:g.82750725C>T | GRCh38 |
| NC_000017.10:g.80708601C>T , CM000679.1:g.80708601C>T | GRCh37 |
| NC_000017.9:g.78301890C>T | NCBI36 |
| NG_011721.1:g.3662C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300784.8:c.900C>T MANE Select | ENSP00000300784.7:p.Ser300= | |
| ENST00000300784.7:c.900C>T | ENSP00000300784.7:p.Ser300= | |
| NM_022158.3:c.900C>T | NP_071441.1:p.Ser300= | |
| XM_024450872.1:c.750C>T | XP_024306640.1:p.Ser250= | |
| NM_022158.4:c.900C>T MANE Select | NP_071441.1:p.Ser300= |