gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0010595 (NFE)
Genomes Max Group AF
0.00098206 (NFE)
Exomes Max Group AF
0.0010533 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.79599021C>T , CM000678.2:g.79599021C>T | GRCh38 |
| NC_000016.9:g.79632918C>T , CM000678.1:g.79632918C>T | GRCh37 |
| NC_000016.8:g.78190419C>T | NCBI36 |
| NG_016440.1:g.6705G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326043.5:c.882G>A MANE Select | ENSP00000327048.4:p.Arg294= | |
| ENST00000326043.4:c.882G>A | ENSP00000327048.4:p.Arg294= | |
| ENST00000393350.1:c.882G>A | ENSP00000377019.1:p.Arg294= | |
| ENST00000569649.1:c.882G>A | ENSP00000455097.1:p.Arg294= | |
| NM_001031804.2:c.882G>A | NP_001026974.1:p.Arg294= | |
| NM_005360.4:c.882G>A | NP_005351.2:p.Arg294= | |
| XM_011523084.1:c.882G>A | XP_011521386.1:p.Arg294= | |
| XM_017023233.2:c.882G>A | XP_016878722.1:p.Arg294= | |
| XM_017023234.2:c.882G>A | XP_016878723.1:p.Arg294= | |
| XM_017023235.2:c.882G>A | XP_016878724.1:p.Arg294= | |
| XM_024450279.1:c.882G>A | XP_024306047.1:p.Arg294= | |
| XR_001751902.2:n.2932G>A | ||
| XR_002957802.1:n.2932G>A | ||
| XR_002957803.1:n.2932G>A | ||
| XR_002957804.1:n.2932G>A | ||
| NM_005360.5:c.882G>A MANE Select | NP_005351.2:p.Arg294= | |
| NM_001031804.3:c.882G>A | NP_001026974.1:p.Arg294= |