gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00169994 (SAS)
Genomes Max Group AF
0.00112453 (SAS)
Exomes Max Group AF
0.00168649 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18071333T>C , CM000670.2:g.18071333T>C | GRCh38 |
| NC_000008.10:g.17928842T>C , CM000670.1:g.17928842T>C | GRCh37 |
| NC_000008.9:g.17973122T>C | NCBI36 |
| NG_008985.1:g.18666A>G | |
| NG_008985.2:g.18666A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.231A>G | ENSP00000371152.4:p.Arg77= | |
| ENST00000518087.7:c.*19A>G | ENSP00000490753.1:n.*19A>G | |
| ENST00000519545.6:n.200A>G | ||
| ENST00000520781.6:c.183A>G | ENSP00000427751.1:p.Arg61= | |
| ENST00000523593.6:c.*26A>G | ENSP00000490700.1:n.*26A>G | |
| ENST00000635769.1:c.204A>G | ENSP00000490485.1:p.Arg68= | |
| ENST00000635944.1:c.*19A>G | ENSP00000490195.1:n.*19A>G | |
| ENST00000635998.1:c.183A>G | ENSP00000490506.1:p.Arg61= | |
| ENST00000636009.1:c.115A>G | ENSP00000489988.1:n.115A>G | |
| ENST00000636033.1:c.*19A>G | ENSP00000489617.1:n.*19A>G | |
| ENST00000636050.1:c.*26A>G | ENSP00000490562.1:n.*26A>G | |
| ENST00000636128.1:c.183A>G | ENSP00000489789.1:p.Arg61= | |
| ENST00000636160.1:c.*75A>G | ENSP00000489651.1:n.*75A>G | |
| ENST00000636171.1:c.183A>G | ENSP00000489761.1:p.Arg61= | |
| ENST00000636269.1:c.-13A>G | ENSP00000490738.1:n.-13A>G | |
| ENST00000636299.1:c.174-1461A>G | ENSP00000490202.1:n.174-1461A>G | |
| ENST00000636435.1:n.267A>G | ||
| ENST00000636455.1:c.231A>G | ENSP00000490502.1:p.Arg77= | |
| ENST00000636494.1:c.126-1455A>G | ENSP00000490388.1:n.126-1455A>G | |
| ENST00000636537.1:c.231A>G | ENSP00000489914.1:p.Arg77= | |
| ENST00000636577.1:c.183A>G | ENSP00000490027.1:p.Arg61= | |
| ENST00000636691.1:c.-13A>G | ENSP00000490725.1:n.-13A>G | |
| ENST00000636701.1:c.126-4035A>G | ENSP00000489800.1:n.126-4035A>G | |
| ENST00000636715.1:c.174-1455A>G | ENSP00000490876.1:n.174-1455A>G | |
| ENST00000636815.1:c.134-1455A>G | ||
| ENST00000636823.1:c.-13A>G | ENSP00000490798.1:n.-13A>G | |
| ENST00000636828.1:n.359A>G | ||
| ENST00000636920.1:c.*19A>G | ENSP00000490437.1:n.*19A>G | |
| ENST00000636997.1:c.183A>G | ENSP00000490093.1:p.Arg61= | |
| ENST00000637013.1:c.*395A>G | ENSP00000490596.1:n.*395A>G | |
| ENST00000637095.1:c.183A>G | ENSP00000490415.1:p.Arg61= | |
| ENST00000637202.1:c.126-1455A>G | ENSP00000490129.1:n.126-1455A>G | |
| ENST00000637244.1:c.*701A>G | ENSP00000490188.1:n.*701A>G | |
| ENST00000637429.1:c.*395A>G | ENSP00000490522.1:n.*395A>G | |
| ENST00000637484.1:c.*220A>G | ENSP00000490837.1:n.*220A>G | |
| ENST00000637528.1:c.183A>G | ENSP00000490801.1:p.Arg61= | |
| ENST00000637536.1:c.537A>G | ENSP00000490464.1:p.Arg179= | |
| ENST00000637561.1:c.183A>G | ENSP00000490536.1:p.Arg61= | |
| ENST00000637603.1:c.183A>G | ENSP00000489979.1:p.Arg61= | |
| ENST00000637609.1:n.216A>G | ||
| ENST00000637636.1:c.183A>G | ENSP00000490112.1:p.Arg61= | |
| ENST00000637638.1:c.183A>G | ENSP00000490774.1:p.Arg61= | |
| ENST00000637718.1:c.-13A>G | ENSP00000490133.1:n.-13A>G | |
| ENST00000637790.2:c.183A>G MANE Select | ENSP00000490272.1:p.Arg61= | |
| ENST00000637792.1:c.231A>G | ENSP00000490423.1:p.Arg77= | |
| ENST00000637805.1:c.*19A>G | ENSP00000489884.1:n.*19A>G | |
| ENST00000637872.1:c.-13A>G | ENSP00000490432.1:n.-13A>G | |
| ENST00000637898.1:n.213A>G | ||
| ENST00000637922.1:c.-13A>G | ENSP00000490071.1:n.-13A>G | |
| ENST00000637946.1:c.*632A>G | ENSP00000490025.1:n.*632A>G | |
| ENST00000637991.1:c.231A>G | ENSP00000489901.1:p.Arg77= | |
| ENST00000638069.1:n.239A>G | ||
| ENST00000262097.10:c.183A>G | ENSP00000262097.6:p.Arg61= | |
| ENST00000314146.10:c.252A>G | ENSP00000326970.10:p.Arg84= | |
| ENST00000381733.8:c.231A>G | ENSP00000371152.4:p.Arg77= | |
| ENST00000518087.6:n.231A>G | ||
| ENST00000519468.5:n.189A>G | ||
| ENST00000519545.5:n.197A>G | ||
| ENST00000520051.1:n.769A>G | ||
| ENST00000520781.5:c.183A>G | ENSP00000427751.1:p.Arg61= | |
| ENST00000523593.5:n.157-4035A>G | ||
| NM_001127505.1:c.252A>G | NP_001120977.1:p.Arg84= | |
| NM_001127505.2:c.252A>G | NP_001120977.1:p.Arg84= | |
| NM_004315.4:c.231A>G | NP_004306.3:p.Arg77= | |
| NM_004315.5:c.231A>G | NP_004306.3:p.Arg77= | |
| NM_177924.3:c.183A>G | NP_808592.2:p.Arg61= | |
| NM_177924.4:c.183A>G | NP_808592.2:p.Arg61= | |
| XM_005273504.2:c.117A>G | XP_005273561.1:p.Arg39= | |
| NM_001363743.1:c.-13A>G | NP_001350672.1:n.-13A>G | |
| XM_005273504.3:c.117A>G | XP_005273561.1:p.Arg39= | |
| NM_177924.5:c.183A>G MANE Select | NP_808592.2:p.Arg61= | |
| NM_001127505.3:c.252A>G | NP_001120977.1:p.Arg84= | |
| NM_001363743.2:c.-13A>G | NP_001350672.1:n.-13A>G | |
| NM_004315.6:c.231A>G | NP_004306.3:p.Arg77= |