gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018727 (AFR)
Genomes Max Group AF
0.00026006 (AFR)
Exomes Max Group AF
0.00003982 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66517207G>T , CM000678.2:g.66517207G>T | GRCh38 |
| NC_000016.9:g.66551110G>T , CM000678.1:g.66551110G>T | GRCh37 |
| NC_000016.8:g.65108611G>T | NCBI36 |
| NG_016862.1:g.38206C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.379C>A | ENSP00000299697.9:p.Arg127= | |
| ENST00000417693.8:c.493C>A | ENSP00000407469.5:p.Arg165= | |
| ENST00000451102.7:c.454C>A | ENSP00000414334.4:p.Arg152= | |
| ENST00000527284.6:c.491C>A | ||
| ENST00000527800.6:c.256C>A | ENSP00000433770.1:p.Arg86= | |
| ENST00000544898.6:c.547C>A MANE Select | ENSP00000440898.2:p.Arg183= | |
| ENST00000567357.6:c.*405C>A | ENSP00000457959.2:n.*405C>A | |
| ENST00000569718.6:c.357-3396C>A | ENSP00000464313.2:n.357-3396C>A | |
| ENST00000620035.5:c.375-3396C>A | ENSP00000483833.2:n.375-3396C>A | |
| ENST00000676538.1:c.130C>A | ||
| ENST00000676904.1:c.89+582C>A | ||
| ENST00000677379.1:c.188C>A | ENSP00000503672.1:n.188C>A | |
| ENST00000677420.1:c.256C>A | ENSP00000504648.1:p.Arg86= | |
| ENST00000677555.1:c.256C>A | ENSP00000503331.1:p.Arg86= | |
| ENST00000677715.1:c.256C>A | ENSP00000502950.1:p.Arg86= | |
| ENST00000678015.1:c.256C>A | ENSP00000502959.1:p.Arg86= | |
| ENST00000678297.1:c.256C>A | ENSP00000503472.1:p.Arg86= | |
| ENST00000678314.1:c.256C>A | ENSP00000504438.1:p.Arg86= | |
| ENST00000299697.11:c.547C>A | ENSP00000299697.8:p.Arg183= | |
| ENST00000417693.7:c.619C>A | ENSP00000407469.4:p.Arg207= | |
| ENST00000451102.6:c.673C>A | ENSP00000414334.3:p.Arg225= | |
| ENST00000525974.5:c.256C>A | ENSP00000434594.1:p.Arg86= | |
| ENST00000527284.5:c.454C>A | ENSP00000435312.1:p.Arg152= | |
| ENST00000527800.5:c.256C>A | ENSP00000433770.1:p.Arg86= | |
| ENST00000544898.5:c.547C>A | ENSP00000440898.2:p.Arg183= | |
| ENST00000545043.6:c.472C>A | ENSP00000438143.2:p.Arg158= | |
| ENST00000561527.5:n.106C>A | ||
| ENST00000562484.2:c.256C>A | ENSP00000463326.1:p.Arg86= | |
| ENST00000562552.5:n.363C>A | ||
| ENST00000563099.5:n.74C>A | ||
| ENST00000563369.6:c.256C>A | ENSP00000463560.1:p.Arg86= | |
| ENST00000563478.5:c.256C>A | ENSP00000462341.1:p.Arg86= | |
| ENST00000564792.1:n.202C>A | ||
| ENST00000564917.5:c.547C>A | ENSP00000455187.1:p.Arg183= | |
| ENST00000567357.5:c.*405C>A | ENSP00000457959.1:n.*405C>A | |
| ENST00000569718.5:c.344-3396C>A | ||
| ENST00000620035.4:c.493C>A | ENSP00000483833.1:p.Arg165= | |
| NM_001172643.1:c.454C>A | NP_001166114.1:p.Arg152= | |
| NM_001172644.1:c.472C>A | NP_001166115.1:p.Arg158= | |
| NM_001172645.1:c.493C>A | NP_001166116.1:p.Arg165= | |
| NM_001271934.1:c.400C>A | NP_001258863.1:p.Arg134= | |
| NM_001271935.1:c.357-3396C>A | NP_001258864.1:n.357-3396C>A | |
| NM_001272050.1:c.256C>A | NP_001258979.1:p.Arg86= | |
| NM_004614.4:c.547C>A | NP_004605.4:p.Arg183= | |
| NR_073520.1:n.1826C>A | ||
| NM_001172644.2:c.472C>A | NP_001166115.1:p.Arg158= | |
| NM_001271934.2:c.400C>A | NP_001258863.1:p.Arg134= | |
| NM_001272050.2:c.256C>A | NP_001258979.1:p.Arg86= | |
| NM_004614.5:c.547C>A MANE Select | NP_004605.4:p.Arg183= | |
| NR_073520.2:n.1536C>A | ||
| NM_001172645.2:c.493C>A | NP_001166116.1:p.Arg165= |