gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60011232 (AFR)
Genomes Max Group AF
0.58972552 (AFR)
Exomes Max Group AF
0.60867053 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122381513C>A , CM000671.2:g.122381513C>A | GRCh38 |
| NC_000009.11:g.125143792C>A , CM000671.1:g.125143792C>A | GRCh37 |
| NC_000009.10:g.124183613C>A | NCBI36 |
| NG_032900.1:g.15564C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362012.7:c.639C>A MANE Select | ENSP00000354612.2:p.Gly213= | |
| ENST00000373698.7:c.312C>A | ENSP00000362802.5:p.Gly104= | |
| ENST00000426608.6:c.330C>A | ENSP00000411606.2:p.Gly110= | |
| ENST00000540753.6:c.564C>A | ENSP00000437709.1:p.Gly188= | |
| ENST00000619306.5:c.495C>A | ENSP00000483540.2:p.Gly165= | |
| ENST00000643576.1:n.733C>A | ||
| ENST00000643810.1:c.312C>A | ENSP00000494717.1:p.Gly104= | |
| ENST00000645132.1:n.519+2940C>A | ||
| ENST00000647067.1:c.*484C>A | ENSP00000495728.1:n.*484C>A | |
| ENST00000223423.8:c.639C>A | ENSP00000223423.4:p.Gly213= | |
| ENST00000362012.6:c.639C>A | ENSP00000354612.2:p.Gly213= | |
| ENST00000373698.6:c.312C>A | ENSP00000362802.5:p.Gly104= | |
| ENST00000426608.5:c.321C>A | ENSP00000411606.1:p.Gly107= | |
| ENST00000540753.5:c.564C>A | ENSP00000437709.1:p.Gly188= | |
| ENST00000614910.4:c.495C>A | ENSP00000484800.1:p.Gly165= | |
| ENST00000619306.4:c.732C>A | ENSP00000483540.1:p.Gly244= | |
| NM_000962.3:c.639C>A | NP_000953.2:p.Gly213= | |
| NM_001271164.1:c.495C>A | NP_001258093.1:p.Gly165= | |
| NM_001271165.1:c.312C>A | NP_001258094.1:p.Gly104= | |
| NM_001271166.1:c.312C>A | NP_001258095.1:p.Gly104= | |
| NM_001271367.1:c.312C>A | NP_001258296.1:p.Gly104= | |
| NM_001271368.1:c.564C>A | NP_001258297.1:p.Gly188= | |
| NM_080591.2:c.639C>A | NP_542158.1:p.Gly213= | |
| XM_005252105.2:c.564C>A | XP_005252162.1:p.Gly188= | |
| XM_011518875.1:c.564C>A | XP_011517177.1:p.Gly188= | |
| XM_011518876.1:c.312C>A | XP_011517178.1:p.Gly104= | |
| XM_005252105.3:c.564C>A | XP_005252162.1:p.Gly188= | |
| XM_011518875.2:c.564C>A | XP_011517177.1:p.Gly188= | |
| XM_011518876.2:c.312C>A | XP_011517178.1:p.Gly104= | |
| XM_024447614.1:c.312C>A | XP_024303382.1:p.Gly104= | |
| XM_024447615.1:c.312C>A | XP_024303383.1:p.Gly104= | |
| NM_000962.4:c.639C>A MANE Select | NP_000953.2:p.Gly213= | |
| NM_001271164.2:c.495C>A | NP_001258093.1:p.Gly165= | |
| NM_001271165.2:c.312C>A | NP_001258094.1:p.Gly104= | |
| NM_001271166.2:c.312C>A | NP_001258095.1:p.Gly104= | |
| NM_001271367.2:c.312C>A | NP_001258296.1:p.Gly104= | |
| NM_001271368.2:c.564C>A | NP_001258297.1:p.Gly188= | |
| NM_080591.3:c.639C>A | NP_542158.1:p.Gly213= |