gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00102327 (AFR)
Genomes Max Group AF
0.00091563 (AFR)
Exomes Max Group AF
0.00097956 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154590331T>C , CM000663.2:g.154590331T>C | GRCh38 |
| NC_000001.10:g.154562807T>C , CM000663.1:g.154562807T>C | GRCh37 |
| NC_000001.9:g.152829431T>C | NCBI36 |
| NG_011844.1:g.42631A>G | |
| NG_011844.2:g.46230A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.2243A>G | ENSP00000497790.2:n.2243A>G | |
| ENST00000649724.2:c.2379A>G | ENSP00000497932.2:p.Glu793= | |
| ENST00000680270.2:c.2232A>G | ENSP00000505532.2:p.Glu744= | |
| ENST00000681056.2:c.2001A>G | ENSP00000506234.2:p.Glu667= | |
| ENST00000368471.8:c.1464A>G | ENSP00000357456.3:p.Glu488= | |
| ENST00000368474.9:c.2349A>G MANE Select | ENSP00000357459.4:p.Glu783= | |
| ENST00000529168.2:c.2349A>G | ENSP00000431794.2:p.Glu783= | |
| ENST00000647682.2:n.2079A>G | ||
| ENST00000648231.2:c.1464A>G | ENSP00000497555.1:p.Glu488= | |
| ENST00000648311.1:c.1464A>G | ENSP00000498137.1:p.Glu488= | |
| ENST00000648714.2:c.2338+11A>G | ENSP00000497434.2:n.2338+11A>G | |
| ENST00000649021.1:n.2385A>G | ||
| ENST00000649022.2:c.1464A>G | ENSP00000496896.2:p.Glu488= | |
| ENST00000649042.1:c.1464A>G | ENSP00000497790.1:p.Glu488= | |
| ENST00000649408.2:c.2349A>G | ENSP00000497386.2:p.Glu783= | |
| ENST00000649724.1:c.1464A>G | ENSP00000497932.1:p.Glu488= | |
| ENST00000649749.1:c.1464A>G | ENSP00000497210.1:p.Glu488= | |
| ENST00000679375.1:c.*659A>G | ENSP00000505887.1:n.*659A>G | |
| ENST00000679465.1:n.2547A>G | ||
| ENST00000679805.1:n.2385A>G | ||
| ENST00000679899.1:c.1407A>G | ENSP00000505996.1:p.Glu469= | |
| ENST00000680270.1:c.1464A>G | ENSP00000505532.1:p.Glu488= | |
| ENST00000680305.1:c.2349A>G | ENSP00000506312.1:p.Glu783= | |
| ENST00000681056.1:c.1464A>G | ENSP00000506234.1:p.Glu488= | |
| ENST00000681235.1:c.*1949A>G | ENSP00000506606.1:n.*1949A>G | |
| ENST00000681429.1:n.1609A>G | ||
| ENST00000681683.1:c.1464A>G | ENSP00000506666.1:p.Glu488= | |
| ENST00000681786.1:n.2547A>G | ||
| ENST00000681901.1:c.*1949A>G | ENSP00000504883.1:n.*1949A>G | |
| ENST00000368471.7:c.1464A>G | ENSP00000357456.3:p.Glu488= | |
| ENST00000368474.8:c.2349A>G | ENSP00000357459.4:p.Glu783= | |
| ENST00000529168.1:c.2334A>G | ENSP00000431794.1:p.Glu778= | |
| NM_001025107.2:c.1464A>G | NP_001020278.1:p.Glu488= | |
| NM_001111.4:c.2349A>G | NP_001102.2:p.Glu783= | |
| NM_001193495.1:c.1464A>G | NP_001180424.1:p.Glu488= | |
| NM_015840.3:c.2349A>G | NP_056655.2:p.Glu783= | |
| NM_015841.3:c.2292A>G | NP_056656.2:p.Glu764= | |
| XM_006711109.1:c.2379A>G | XP_006711172.1:p.Glu793= | |
| XM_006711111.2:c.1464A>G | XP_006711174.1:p.Glu488= | |
| XM_006711112.1:c.1464A>G | XP_006711175.1:p.Glu488= | |
| XM_006711113.1:c.1464A>G | XP_006711176.1:p.Glu488= | |
| XM_011509060.1:c.2478A>G | XP_011507362.1:p.Glu826= | |
| XM_011509061.1:c.2478A>G | XP_011507363.1:p.Glu826= | |
| XM_011509062.1:c.2367A>G | XP_011507364.1:p.Glu789= | |
| NM_001025107.3:c.1464A>G | NP_001020278.1:p.Glu488= | |
| NM_001111.5:c.2349A>G MANE Select | NP_001102.3:p.Glu783= | |
| NM_001193495.2:c.1464A>G | NP_001180424.1:p.Glu488= | |
| NM_001365045.1:c.2376A>G | NP_001351974.1:p.Glu792= | |
| NM_001365046.1:c.1464A>G | NP_001351975.1:p.Glu488= | |
| NM_001365047.1:c.1464A>G | NP_001351976.1:p.Glu488= | |
| NM_001365048.1:c.1464A>G | NP_001351977.1:p.Glu488= | |
| NM_001365049.1:c.1464A>G | NP_001351978.1:p.Glu488= | |
| NM_015840.4:c.2349A>G | NP_056655.3:p.Glu783= | |
| NM_015841.4:c.2292A>G | NP_056656.3:p.Glu764= | |
| XM_006711113.2:c.1464A>G | XP_006711176.1:p.Glu488= | |
| XM_011509061.2:c.1464A>G | XP_011507363.2:p.Glu488= | |
| XM_024449674.1:c.2478A>G | XP_024305442.1:p.Glu826= |