gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000103 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000931 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13294521C>A , CM000672.2:g.13294521C>A | GRCh38 |
| NC_000010.10:g.13336521C>A , CM000672.1:g.13336521C>A | GRCh37 |
| NC_000010.9:g.13376527C>A | NCBI36 |
| NG_012862.1:g.10610G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.321G>T MANE Select | ENSP00000263038.4:p.Ser107= | |
| ENST00000263038.8:c.321G>T | ENSP00000263038.4:p.Ser107= | |
| ENST00000396913.6:c.21G>T | ENSP00000380121.2:p.Ser7= | |
| ENST00000396920.7:c.264G>T | ENSP00000380126.3:p.Ser88= | |
| ENST00000453759.6:c.21G>T | ENSP00000412525.2:p.Ser7= | |
| ENST00000464049.1:n.467G>T | ||
| ENST00000479604.1:c.321G>T | ENSP00000420117.1:p.Ser107= | |
| NM_001037537.1:c.21G>T | NP_001032626.1:p.Ser7= | |
| NM_006214.3:c.321G>T | NP_006205.1:p.Ser107= | |
| XM_005252469.2:c.366G>T | XP_005252526.1:p.Ser122= | |
| NM_001323080.1:c.21G>T | NP_001310009.1:p.Ser7= | |
| NM_001323082.1:c.321G>T | NP_001310011.1:p.Ser107= | |
| NM_001323083.1:c.321G>T | NP_001310012.1:p.Ser107= | |
| NM_001323084.1:c.21G>T | NP_001310013.1:p.Ser7= | |
| NM_006214.4:c.321G>T MANE Select | NP_006205.1:p.Ser107= | |
| NM_001037537.2:c.21G>T | NP_001032626.1:p.Ser7= | |
| NM_001323080.2:c.21G>T | NP_001310009.1:p.Ser7= | |
| NM_001323082.2:c.321G>T | NP_001310011.1:p.Ser107= | |
| NM_001323083.2:c.321G>T | NP_001310012.1:p.Ser107= | |
| NM_001323084.2:c.21G>T | NP_001310013.1:p.Ser7= |