gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010393 (EAS)
Genomes Max Group AF
0.00006801 (EAS)
Exomes Max Group AF
0.00008201 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169401830T>C , CM000666.2:g.169401830T>C | GRCh38 |
| NC_000004.11:g.170322981T>C , CM000666.1:g.170322981T>C | GRCh37 |
| NC_000004.10:g.170559556T>C | NCBI36 |
| NG_027982.1:g.215798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.3237A>G | ENSP00000508844.1:p.Gln1079= | |
| ENST00000685677.1:n.2703A>G | ||
| ENST00000686697.1:c.2922A>G | ENSP00000508689.1:p.Gln974= | |
| ENST00000687054.1:n.3899A>G | ||
| ENST00000687528.1:c.*2140A>G | ENSP00000510228.1:n.*2140A>G | |
| ENST00000687643.1:c.3348A>G | ENSP00000509309.1:p.Gln1116= | |
| ENST00000688934.1:c.1428A>G | ENSP00000510760.1:p.Gln476= | |
| ENST00000690540.1:n.2855A>G | ||
| ENST00000507142.6:c.3405A>G MANE Select | ENSP00000424757.2:p.Gln1135= | |
| ENST00000638824.1:n.1533A>G | ||
| ENST00000439128.6:c.3321A>G | ENSP00000408020.2:p.Gln1107= | |
| ENST00000507142.5:c.3405A>G | ENSP00000424757.1:p.Gln1135= | |
| ENST00000510533.5:c.3189A>G | ENSP00000427653.1:p.Gln1063= | |
| ENST00000511633.5:c.3273A>G | ENSP00000423332.1:p.Gln1091= | |
| ENST00000512193.5:c.3114A>G | ENSP00000424938.1:p.Gln1038= | |
| NM_001199397.1:c.3405A>G | NP_001186326.1:p.Gln1135= | |
| NM_001199398.1:c.3273A>G | NP_001186327.1:p.Gln1091= | |
| NM_001199399.1:c.3114A>G | NP_001186328.1:p.Gln1038= | |
| NM_001199400.1:c.3189A>G | NP_001186329.1:p.Gln1063= | |
| NM_012224.2:c.3321A>G | NP_036356.1:p.Gln1107= | |
| XM_006714228.1:c.3228A>G | XP_006714291.1:p.Gln1076= | |
| XM_011532003.1:c.3321A>G | XP_011530305.1:p.Gln1107= | |
| XM_011532004.1:c.3189A>G | XP_011530306.1:p.Gln1063= | |
| XM_017008249.1:c.2784A>G | XP_016863738.1:p.Gln928= | |
| XM_017008251.1:c.2700A>G | XP_016863740.1:p.Gln900= | |
| XM_017008252.2:c.2700A>G | XP_016863741.1:p.Gln900= | |
| XM_017008253.1:c.2253A>G | XP_016863742.1:p.Gln751= | |
| XM_017008254.1:c.2049A>G | XP_016863743.1:p.Gln683= | |
| XM_024454065.1:c.2784A>G | XP_024309833.1:p.Gln928= | |
| XR_001741233.1:n.3690A>G | ||
| NM_001199397.3:c.3405A>G MANE Select | NP_001186326.1:p.Gln1135= | |
| NM_001199398.2:c.3273A>G | NP_001186327.1:p.Gln1091= | |
| NM_001199399.2:c.3114A>G | NP_001186328.1:p.Gln1038= | |
| NM_001199400.2:c.3189A>G | NP_001186329.1:p.Gln1063= | |
| NM_001374418.1:c.3405A>G | NP_001361347.1:p.Gln1135= | |
| NM_001374419.1:c.3321A>G | NP_001361348.1:p.Gln1107= | |
| NM_001374420.1:c.3270A>G | NP_001361349.1:p.Gln1090= | |
| NM_001374421.1:c.2922A>G | NP_001361350.1:p.Gln974= | |
| NM_012224.3:c.3321A>G | NP_036356.1:p.Gln1107= | |
| NR_164630.1:n.3867A>G | ||
| NM_001199398.3:c.3273A>G | NP_001186327.1:p.Gln1091= | |
| NM_001199399.3:c.3114A>G | NP_001186328.1:p.Gln1038= | |
| NM_001199400.3:c.3189A>G | NP_001186329.1:p.Gln1063= | |
| NM_012224.4:c.3321A>G | NP_036356.1:p.Gln1107= |