gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00644541 (MID)
Genomes Max Group AF
0.00016894 (SAS)
Exomes Max Group AF
0.00627997 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41813055C>T , CM000679.2:g.41813055C>T | GRCh38 |
| NC_000017.10:g.39969307C>T , CM000679.1:g.39969307C>T | GRCh37 |
| NC_000017.9:g.37222833C>T | NCBI36 |
| NG_015860.1:g.5346C>T , LRG_12:g.5346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706683.1:c.21C>T | ENSP00000516497.1:p.Pro7= | |
| ENST00000321562.9:c.21C>T MANE Select | ENSP00000317232.4:p.Pro7= | |
| ENST00000321562.8:c.21C>T | ENSP00000317232.4:p.Pro7= | |
| ENST00000429461.5:c.-23+133C>T | ENSP00000408232.1:n.-23+133C>T | |
| ENST00000489591.5:c.21C>T | ENSP00000466352.1:p.Pro7= | |
| ENST00000585664.5:c.-22-138C>T | ENSP00000468703.1:n.-22-138C>T | |
| ENST00000585922.5:c.21C>T | ENSP00000466097.1:p.Pro7= | |
| NM_021939.3:c.21C>T , LRG_12t1:c.21C>T | NP_068758.3:p.Pro7= | |
| XM_011525099.1:c.21C>T | XP_011523401.1:p.Pro7= | |
| XM_011525100.1:c.-107C>T | XP_011523402.1:n.-107C>T | |
| XM_011525099.3:c.21C>T | XP_011523401.1:p.Pro7= | |
| XM_011525100.2:c.-107C>T | XP_011523402.1:n.-107C>T | |
| NM_021939.4:c.21C>T MANE Select | NP_068758.3:p.Pro7= |