gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00074602 (AFR)
Genomes Max Group AF
0.00074646 (AFR)
Exomes Max Group AF
0.00059673 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33772017C>A , CM000681.2:g.33772017C>A | GRCh38 |
| NC_000019.9:g.34262922C>A , CM000681.1:g.34262922C>A | GRCh37 |
| NC_000019.8:g.38954762C>A | NCBI36 |
| NG_029857.1:g.155062C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650847.1:c.229C>A MANE Select | ENSP00000499084.1:p.Arg77= | |
| ENST00000262622.4:c.229C>A | ENSP00000262622.3:p.Arg77= | |
| ENST00000434302.5:c.229C>A | ENSP00000392604.1:p.Arg77= | |
| ENST00000438847.7:c.229C>A | ENSP00000393879.1:p.Arg77= | |
| ENST00000591231.5:c.229C>A | ENSP00000467012.1:p.Arg77= | |
| NM_001127895.1:c.229C>A | NP_001121367.1:p.Arg77= | |
| NM_001127896.1:c.229C>A | NP_001121368.1:p.Arg77= | |
| NM_022467.3:c.229C>A | NP_071912.2:p.Arg77= | |
| XM_011527220.1:c.229C>A | XP_011525522.1:p.Arg77= | |
| XM_011527221.1:c.229C>A | XP_011525523.1:p.Arg77= | |
| XM_011527222.1:c.229C>A | XP_011525524.1:p.Arg77= | |
| XM_011527223.1:c.229C>A | XP_011525525.1:p.Arg77= | |
| XM_011527224.1:c.229C>A | XP_011525526.1:p.Arg77= | |
| XM_011527225.1:c.229C>A | XP_011525527.1:p.Arg77= | |
| XM_011527226.1:c.229C>A | XP_011525528.1:p.Arg77= | |
| XM_017027143.1:c.229C>A | XP_016882632.1:p.Arg77= | |
| NM_001127895.2:c.229C>A MANE Select | NP_001121367.1:p.Arg77= | |
| NM_001127896.2:c.229C>A | NP_001121368.1:p.Arg77= |