gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004774 (EAS)
Exomes Max Group AF
0.00003797 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45477803G>A , CM000683.2:g.45477803G>A | GRCh38 |
| NC_000021.8:g.46897717G>A , CM000683.1:g.46897717G>A | GRCh37 |
| NC_000021.7:g.45722145G>A | NCBI36 |
| NG_011903.1:g.77621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.1599G>A | ENSP00000347665.5:p.Arg533= | |
| ENST00000651438.1:c.1059G>A MANE Select | ENSP00000498485.1:p.Arg353= | |
| ENST00000355480.9:c.1599G>A | ENSP00000347665.5:p.Arg533= | |
| ENST00000359759.8:c.2304G>A | ENSP00000352798.4:p.Arg768= | |
| ENST00000400337.6:c.1059G>A | ENSP00000383191.2:p.Arg353= | |
| NM_030582.3:c.1599G>A | NP_085059.2:p.Arg533= | |
| NM_130444.2:c.2304G>A | NP_569711.2:p.Arg768= | |
| NM_130445.3:c.1059G>A | NP_569712.2:p.Arg353= | |
| NM_030582.4:c.1599G>A | NP_085059.2:p.Arg533= | |
| NM_130444.3:c.2304G>A | NP_569711.2:p.Arg768= | |
| NM_130445.4:c.1059G>A | NP_569712.2:p.Arg353= | |
| NM_001379500.1:c.1059G>A MANE Select | NP_001366429.1:p.Arg353= |