gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21833551G>A , CM000663.2:g.21833551G>A | GRCh38 |
| NC_000001.10:g.22160044G>A , CM000663.1:g.22160044G>A | GRCh37 |
| NC_000001.9:g.22032631G>A | NCBI36 |
| NG_016740.1:g.108707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.10894C>T MANE Select | ENSP00000363827.3:p.Arg3632Ter | |
| ENST00000374695.7:c.10894C>T | ENSP00000363827.3:p.Arg3632Ter | |
| ENST00000471322.2:n.1249C>T | ||
| ENST00000635682.1:c.27C>T | ||
| NM_001291860.1:c.10897C>T | NP_001278789.1:p.Arg3633Ter | |
| NM_005529.6:c.10894C>T | NP_005520.4:p.Arg3632Ter | |
| XM_006710594.2:c.11440C>T | XP_006710657.1:p.Arg3814Ter | |
| XM_006710595.2:c.11392C>T | XP_006710658.1:p.Arg3798Ter | |
| XM_006710596.2:c.11371C>T | XP_006710659.1:p.Arg3791Ter | |
| XM_006710597.2:c.10894C>T | XP_006710660.1:p.Arg3632Ter | |
| XM_011541317.1:c.11443C>T | XP_011539619.1:p.Arg3815Ter | |
| XM_011541318.1:c.11443C>T | XP_011539620.1:p.Arg3815Ter | |
| XM_011541319.1:c.11443C>T | XP_011539621.1:p.Arg3815Ter | |
| XM_011541320.1:c.11164C>T | XP_011539622.1:p.Arg3722Ter | |
| XM_011541321.1:c.10948C>T | XP_011539623.1:p.Arg3650Ter | |
| XM_011541318.2:c.11443C>T | XP_011539620.1:p.Arg3815Ter | |
| XM_017001120.1:c.11089C>T | XP_016856609.1:p.Arg3697Ter | |
| XM_017001121.1:c.11038C>T | XP_016856610.1:p.Arg3680Ter | |
| XM_017001122.1:c.11035C>T | XP_016856611.1:p.Arg3679Ter | |
| NM_005529.7:c.10894C>T MANE Select | NP_005520.4:p.Arg3632Ter | |
| NM_001291860.2:c.10897C>T | NP_001278789.1:p.Arg3633Ter |