gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0015157 (AFR)
Genomes Max Group AF
0.00167271 (AFR)
Exomes Max Group AF
0.00111134 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34235293C>T , CM000677.2:g.34235293C>T | GRCh38 |
| NC_000015.9:g.34527494C>T , CM000677.1:g.34527494C>T | GRCh37 |
| NC_000015.8:g.32314786C>T | NCBI36 |
| NG_007951.1:g.107772G>A , LRG_270:g.107772G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.3249G>A MANE Select | ENSP00000346112.3:p.Arg1083= | |
| ENST00000676379.1:c.3249G>A | ENSP00000502539.1:p.Arg1083= | |
| ENST00000290209.9:c.3096G>A | ENSP00000290209.5:p.Arg1032= | |
| ENST00000354181.7:c.3249G>A | ENSP00000346112.3:p.Arg1083= | |
| ENST00000397702.6:c.3072G>A | ENSP00000380814.2:p.Arg1024= | |
| ENST00000397707.6:c.3204G>A | ENSP00000380819.2:p.Arg1068= | |
| ENST00000458406.6:c.3072G>A | ENSP00000387725.2:p.Arg1024= | |
| ENST00000558589.5:c.3222G>A | ENSP00000452776.1:p.Arg1074= | |
| ENST00000558667.5:c.3249G>A | ENSP00000453473.1:p.Arg1083= | |
| ENST00000559523.5:c.*272G>A | ENSP00000452904.1:n.*272G>A | |
| ENST00000559664.5:c.*458G>A | ENSP00000453702.1:n.*458G>A | |
| ENST00000560164.5:c.2685G>A | ENSP00000452705.1:p.Arg895= | |
| ENST00000560611.5:c.3249G>A | ENSP00000454168.1:p.Arg1083= | |
| ENST00000561080.5:c.*487G>A | ENSP00000454069.1:n.*487G>A | |
| NM_001042494.1:c.3072G>A | NP_001035959.1:p.Arg1024= | |
| NM_001042495.1:c.3072G>A | NP_001035960.1:p.Arg1024= | |
| NM_001042496.1:c.3222G>A | NP_001035961.1:p.Arg1074= | |
| NM_001042497.1:c.3204G>A | NP_001035962.1:p.Arg1068= | |
| NM_005135.2:c.3096G>A , LRG_270t1:c.3096G>A | NP_005126.1:p.Arg1032= | |
| NM_133647.1:c.3249G>A , LRG_270t2:c.3249G>A | NP_598408.1:p.Arg1083= | |
| XM_006720793.2:c.3102G>A | XP_006720856.1:p.Arg1034= | |
| XM_011522267.1:c.3249G>A | XP_011520569.1:p.Arg1083= | |
| XM_011522268.1:c.3249G>A | XP_011520570.1:p.Arg1083= | |
| XR_429476.2:n.3255G>A | ||
| NM_001365088.1:c.3249G>A MANE Select | NP_001352017.1:p.Arg1083= | |
| XM_006720793.4:c.3102G>A | XP_006720856.1:p.Arg1034= | |
| XR_931960.3:n.4528G>A | ||
| NM_001042494.2:c.3072G>A | NP_001035959.1:p.Arg1024= | |
| NM_001042495.2:c.3072G>A | NP_001035960.1:p.Arg1024= | |
| NM_001042496.2:c.3222G>A | NP_001035961.1:p.Arg1074= | |
| NM_001042497.2:c.3204G>A | NP_001035962.1:p.Arg1068= | |
| NM_133647.2:c.3249G>A | NP_598408.1:p.Arg1083= |