gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013707 (EAS)
Genomes Max Group AF
0.0001582 (EAS)
Exomes Max Group AF
0.00010035 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121861656C>A , CM000666.2:g.121861656C>A | GRCh38 |
| NC_000004.11:g.122782811C>A , CM000666.1:g.122782811C>A | GRCh37 |
| NC_000004.10:g.123002261C>A | NCBI36 |
| NG_009111.1:g.13832G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.189G>T MANE Select | ENSP00000264499.4:p.Gly63= | |
| ENST00000264499.8:c.189G>T | ENSP00000264499.4:p.Gly63= | |
| ENST00000502444.1:n.363G>T | ||
| ENST00000505692.1:n.24G>T | ||
| ENST00000506636.1:c.189G>T | ENSP00000423626.1:p.Gly63= | |
| NM_018190.3:c.189G>T | NP_060660.2:p.Gly63= | |
| NM_176824.2:c.189G>T | NP_789794.1:p.Gly63= | |
| XM_005263106.2:c.189G>T | XP_005263163.1:p.Gly63= | |
| XM_011532079.1:c.189G>T | XP_011530381.1:p.Gly63= | |
| XM_011532080.1:c.189G>T | XP_011530382.1:p.Gly63= | |
| XM_011532081.1:c.189G>T | XP_011530383.1:p.Gly63= | |
| XM_005263106.4:c.189G>T | XP_005263163.1:p.Gly63= | |
| XM_011532079.3:c.189G>T | XP_011530381.1:p.Gly63= | |
| XM_011532080.3:c.189G>T | XP_011530382.1:p.Gly63= | |
| XM_011532081.3:c.189G>T | XP_011530383.1:p.Gly63= | |
| XM_017008357.2:c.189G>T | XP_016863846.1:p.Gly63= | |
| XM_017008358.2:c.189G>T | XP_016863847.1:p.Gly63= | |
| NM_176824.3:c.189G>T MANE Select | NP_789794.1:p.Gly63= | |
| NM_018190.4:c.189G>T | NP_060660.2:p.Gly63= |