gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179557080G>T , CM000663.2:g.179557080G>T | GRCh38 |
| NC_000001.10:g.179526215G>T , CM000663.1:g.179526215G>T | GRCh37 |
| NC_000001.9:g.177792838G>T | NCBI36 |
| NG_007535.1:g.23870C>A , LRG_887:g.23870C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.685C>A MANE Select | ENSP00000356587.4:p.Arg229= | |
| ENST00000367615.8:c.685C>A | ENSP00000356587.4:p.Arg229= | |
| ENST00000367616.4:c.535-2549C>A | ENSP00000356588.4:n.535-2549C>A | |
| NM_001297575.1:c.535-2549C>A | NP_001284504.1:n.535-2549C>A | |
| NM_014625.3:c.685C>A , LRG_887t1:c.685C>A | NP_055440.1:p.Arg229= | |
| XM_005245483.2:c.508C>A | XP_005245540.1:p.Arg170= | |
| XM_006711529.2:c.685C>A | XP_006711592.1:p.Arg229= | |
| XM_005245483.3:c.508C>A | XP_005245540.1:p.Arg170= | |
| XM_017002298.1:c.461+2599C>A | XP_016857787.1:n.461+2599C>A | |
| XM_017002299.1:c.534+2599C>A | XP_016857788.1:n.534+2599C>A | |
| NM_001297575.2:c.535-2549C>A | NP_001284504.1:n.535-2549C>A | |
| NM_014625.4:c.685C>A MANE Select | NP_055440.1:p.Arg229= |