gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006476 (NFE)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00006785 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5874954G>A , CM000663.2:g.5874954G>A | GRCh38 |
| NC_000001.10:g.5935014G>A , CM000663.1:g.5935014G>A | GRCh37 |
| NC_000001.9:g.5857601G>A | NCBI36 |
| NG_011724.2:g.122518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.2964C>T MANE Select | ENSP00000367398.4:p.Ala988= | |
| ENST00000378156.8:c.2964C>T | ENSP00000367398.4:p.Ala988= | |
| ENST00000378169.7:c.*1865C>T | ENSP00000367411.3:n.*1865C>T | |
| ENST00000478423.6:n.2696C>T | ||
| ENST00000489180.6:c.*775C>T | ENSP00000423747.1:n.*775C>T | |
| ENST00000506941.1:n.521C>T | ||
| NM_001291593.1:c.1425C>T | NP_001278522.1:p.Ala475= | |
| NM_001291594.1:c.1428C>T | NP_001278523.1:p.Ala476= | |
| NM_015102.4:c.2964C>T | NP_055917.1:p.Ala988= | |
| NR_111987.1:n.3779C>T | ||
| XM_006710563.2:c.2964C>T | XP_006710626.1:p.Ala988= | |
| XM_006710565.2:c.2964C>T | XP_006710628.1:p.Ala988= | |
| XM_011541213.1:c.2961C>T | XP_011539515.1:p.Ala987= | |
| XM_011541214.1:c.2922C>T | XP_011539516.1:p.Ala974= | |
| XM_011541215.1:c.2853C>T | XP_011539517.1:p.Ala951= | |
| XM_011541216.1:c.2964C>T | XP_011539518.1:p.Ala988= | |
| XM_011541217.1:c.2964C>T | XP_011539519.1:p.Ala988= | |
| XM_011541218.1:c.2964C>T | XP_011539520.1:p.Ala988= | |
| XM_011541219.1:c.2910C>T | XP_011539521.1:p.Ala970= | |
| XM_011541220.1:c.2964C>T | XP_011539522.1:p.Ala988= | |
| XR_946604.1:n.3002C>T | ||
| XM_006710563.3:c.2964C>T | XP_006710626.1:p.Ala988= | |
| XM_011541216.2:c.2964C>T | XP_011539518.1:p.Ala988= | |
| XM_011541217.2:c.2964C>T | XP_011539519.1:p.Ala988= | |
| XM_011541218.2:c.2964C>T | XP_011539520.1:p.Ala988= | |
| XM_017000996.1:c.2919C>T | XP_016856485.1:p.Ala973= | |
| XM_017000997.1:c.2964C>T | XP_016856486.1:p.Ala988= | |
| XM_017000998.1:c.2964C>T | XP_016856487.1:p.Ala988= | |
| XM_017000999.1:c.2436C>T | XP_016856488.1:p.Ala812= | |
| XM_017001000.2:c.2436C>T | XP_016856489.1:p.Ala812= | |
| XM_017001001.1:c.2166C>T | XP_016856490.1:p.Ala722= | |
| XM_017001003.1:c.1425C>T | XP_016856492.1:p.Ala475= | |
| XR_001737114.1:n.3002C>T | ||
| XR_001737115.1:n.3002C>T | ||
| NM_015102.5:c.2964C>T MANE Select | NP_055917.1:p.Ala988= | |
| NM_001291593.2:c.1425C>T | NP_001278522.1:p.Ala475= | |
| NM_001291594.2:c.1428C>T | NP_001278523.1:p.Ala476= | |
| NR_111987.2:n.3731C>T |