gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00034566 (AMR)
Genomes Max Group AF
0.00081686 (AMR)
Exomes Max Group AF
0.00012079 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168970131G>A , CM000664.2:g.168970131G>A | GRCh38 |
| NC_000002.11:g.169826641G>A , CM000664.1:g.169826641G>A | GRCh37 |
| NC_000002.10:g.169534887G>A | NCBI36 |
| NG_007374.1:g.66193C>T | |
| NG_007374.2:g.66266C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.40C>T | ENSP00000497165.1:p.Arg14Ter | |
| ENST00000650372.1:c.1723C>T MANE Select | ENSP00000497931.1:p.Arg575Ter | |
| ENST00000263817.6:c.1723C>T | ENSP00000263817.6:p.Arg575Ter | |
| ENST00000439188.1:c.412C>T | ENSP00000416058.1:n.412C>T | |
| ENST00000478354.1:n.461C>T | ||
| NM_003742.2:c.1723C>T | NP_003733.2:p.Arg575Ter | |
| XM_006712817.2:c.1765C>T | XP_006712880.1:p.Arg589Ter | |
| XM_011512077.1:c.1825C>T | XP_011510379.1:p.Arg609Ter | |
| XM_011512078.1:c.1825C>T | XP_011510380.1:p.Arg609Ter | |
| XM_011512079.1:c.1825C>T | XP_011510381.1:p.Arg609Ter | |
| XM_011512080.1:c.1825C>T | XP_011510382.1:p.Arg609Ter | |
| XM_011512081.1:c.49C>T | XP_011510383.1:p.Arg17Ter | |
| NM_003742.4:c.1723C>T MANE Select | NP_003733.2:p.Arg575Ter | |
| XM_006712817.3:c.1765C>T | XP_006712880.1:p.Arg589Ter | |
| XM_011512077.2:c.1825C>T | XP_011510379.1:p.Arg609Ter | |
| XM_011512078.2:c.1825C>T | XP_011510380.1:p.Arg609Ter | |
| XM_011512080.2:c.1825C>T | XP_011510382.1:p.Arg609Ter | |
| XM_011512081.2:c.49C>T | XP_011510383.1:p.Arg17Ter | |
| XM_017005165.1:c.1825C>T | XP_016860654.1:p.Arg609Ter | |
| XM_017005166.1:c.1054C>T | XP_016860655.1:p.Arg352Ter | |
| XM_017005167.1:c.508C>T | XP_016860656.1:p.Arg170Ter |