gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002745 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00005849 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126577108G>A , CM000667.2:g.126577108G>A | GRCh38 |
| NC_000005.9:g.125912800G>A , CM000667.1:g.125912800G>A | GRCh37 |
| NC_000005.8:g.125940699G>A | NCBI36 |
| NG_008600.2:g.23283C>T | |
| NG_008600.3:g.23283C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.621C>T MANE Select | ENSP00000387123.3:p.Ile207= | |
| ENST00000412186.2:c.497C>T | ENSP00000414536.2:n.497C>T | |
| ENST00000413020.6:c.621C>T | ENSP00000487936.1:p.Ile207= | |
| ENST00000458249.6:c.*530C>T | ENSP00000403929.1:n.*530C>T | |
| ENST00000503281.6:c.210C>T | ||
| ENST00000509270.2:c.555C>T | ENSP00000449318.2:p.Ile185= | |
| ENST00000509459.6:c.169C>T | ||
| ENST00000511266.6:n.1343C>T | ||
| ENST00000635851.1:c.619C>T | ||
| ENST00000636062.1:n.516C>T | ||
| ENST00000636225.1:c.*430C>T | ENSP00000490797.1:n.*430C>T | |
| ENST00000636286.1:n.339C>T | ||
| ENST00000636743.1:c.501C>T | ENSP00000489725.1:p.Ile167= | |
| ENST00000636808.1:c.*430C>T | ENSP00000490833.1:n.*430C>T | |
| ENST00000636872.1:c.781C>T | ENSP00000490919.1:n.781C>T | |
| ENST00000636879.1:c.666C>T | ENSP00000490811.1:p.Ile222= | |
| ENST00000636886.1:c.420C>T | ENSP00000490371.1:p.Ile140= | |
| ENST00000637206.1:c.621C>T | ENSP00000489895.1:p.Ile207= | |
| ENST00000637272.1:c.621C>T | ENSP00000489686.1:p.Ile207= | |
| ENST00000637292.1:c.274C>T | ||
| ENST00000637782.1:c.621C>T | ENSP00000490024.1:p.Ile207= | |
| ENST00000637964.1:c.567C>T | ENSP00000490291.1:p.Ile189= | |
| ENST00000638008.1:c.*563C>T | ENSP00000490400.1:n.*563C>T | |
| ENST00000409134.7:c.621C>T | ENSP00000387123.3:p.Ile207= | |
| ENST00000413020.5:c.621C>T | ENSP00000487936.1:p.Ile207= | |
| ENST00000433026.5:n.148C>T | ||
| ENST00000447989.6:c.702C>T | ENSP00000414132.2:p.Ile234= | |
| ENST00000458249.5:c.781C>T | ENSP00000403929.1:n.781C>T | |
| ENST00000503281.5:c.210C>T | ||
| ENST00000509459.5:c.169C>T | ||
| ENST00000510111.6:c.534C>T | ENSP00000447388.1:p.Ile178= | |
| ENST00000511266.5:n.452C>T | ||
| ENST00000553117.5:c.621C>T | ENSP00000448593.1:p.Ile207= | |
| NM_001182.4:c.621C>T | NP_001173.2:p.Ile207= | |
| NM_001201377.1:c.537C>T | NP_001188306.1:p.Ile179= | |
| NM_001202404.1:c.702C>T | NP_001189333.1:p.Ile234= | |
| XM_011543417.1:c.216C>T | XP_011541719.1:p.Ile72= | |
| XM_011543417.2:c.216C>T | XP_011541719.1:p.Ile72= | |
| NM_001182.5:c.621C>T MANE Select | NP_001173.2:p.Ile207= | |
| NM_001201377.2:c.537C>T | NP_001188306.1:p.Ile179= | |
| NM_001202404.2:c.621C>T | NP_001189333.2:p.Ile207= |