ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001673 (NFE)
Genomes Max Group AF
0.0000053 (NFE)
Exomes Max Group AF
0.00001648 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18067211G>C , CM000670.2:g.18067211G>C | GRCh38 |
| NC_000008.10:g.17924720G>C , CM000670.1:g.17924720G>C | GRCh37 |
| NC_000008.9:g.17969000G>C | NCBI36 |
| NG_008985.1:g.22788C>G | |
| NG_008985.2:g.22788C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.430+9C>G | ENSP00000371152.4:n.430+9C>G | |
| ENST00000518087.7:c.*227C>G | ENSP00000490753.1:n.*227C>G | |
| ENST00000519545.6:n.399+9C>G | ||
| ENST00000520781.6:c.382+9C>G | ENSP00000427751.1:n.382+9C>G | |
| ENST00000523593.6:c.*225+9C>G | ENSP00000490700.1:n.*225+9C>G | |
| ENST00000523744.2:n.1461C>G | ||
| ENST00000635769.1:c.403+9C>G | ENSP00000490485.1:n.403+9C>G | |
| ENST00000635944.1:c.*218+9C>G | ENSP00000490195.1:n.*218+9C>G | |
| ENST00000635998.1:c.382+9C>G | ENSP00000490506.1:n.382+9C>G | |
| ENST00000636009.1:c.314+9C>G | ENSP00000489988.1:n.314+9C>G | |
| ENST00000636033.1:c.*218+9C>G | ENSP00000489617.1:n.*218+9C>G | |
| ENST00000636050.1:c.*225+9C>G | ENSP00000490562.1:n.*225+9C>G | |
| ENST00000636128.1:c.382+9C>G | ENSP00000489789.1:n.382+9C>G | |
| ENST00000636160.1:c.*274+9C>G | ENSP00000489651.1:n.*274+9C>G | |
| ENST00000636171.1:c.382+9C>G | ENSP00000489761.1:n.382+9C>G | |
| ENST00000636269.1:c.196C>G | ENSP00000490738.1:p.His66Asp | |
| ENST00000636299.1:c.*153+9C>G | ENSP00000490202.1:n.*153+9C>G | |
| ENST00000636435.1:n.475C>G | ||
| ENST00000636455.1:c.430+9C>G | ENSP00000490502.1:n.430+9C>G | |
| ENST00000636494.1:c.*162+9C>G | ENSP00000490388.1:n.*162+9C>G | |
| ENST00000636537.1:c.439C>G | ENSP00000489914.1:p.His147Asp | |
| ENST00000636577.1:c.382+9C>G | ENSP00000490027.1:n.382+9C>G | |
| ENST00000636691.1:c.187+9C>G | ENSP00000490725.1:n.187+9C>G | |
| ENST00000636701.1:c.*33+9C>G | ENSP00000489800.1:n.*33+9C>G | |
| ENST00000636715.1:c.*171C>G | ENSP00000490876.1:n.*171C>G | |
| ENST00000636815.1:c.299+9C>G | ||
| ENST00000636823.1:c.187+9C>G | ENSP00000490798.1:n.187+9C>G | |
| ENST00000636828.1:n.567C>G | ||
| ENST00000636920.1:c.*218+9C>G | ENSP00000490437.1:n.*218+9C>G | |
| ENST00000636997.1:c.295+9C>G | ENSP00000490093.1:n.295+9C>G | |
| ENST00000637013.1:c.*594+9C>G | ENSP00000490596.1:n.*594+9C>G | |
| ENST00000637095.1:c.*162+9C>G | ENSP00000490415.1:n.*162+9C>G | |
| ENST00000637202.1:c.*171C>G | ENSP00000490129.1:n.*171C>G | |
| ENST00000637244.1:c.*900+9C>G | ENSP00000490188.1:n.*900+9C>G | |
| ENST00000637429.1:c.*594+9C>G | ENSP00000490522.1:n.*594+9C>G | |
| ENST00000637484.1:c.*419+9C>G | ENSP00000490837.1:n.*419+9C>G | |
| ENST00000637528.1:c.382+9C>G | ENSP00000490801.1:n.382+9C>G | |
| ENST00000637561.1:c.391C>G | ENSP00000490536.1:p.His131Asp | |
| ENST00000637603.1:c.352+39C>G | ENSP00000489979.1:n.352+39C>G | |
| ENST00000637609.1:n.424C>G | ||
| ENST00000637636.1:c.376+9C>G | ENSP00000490112.1:n.376+9C>G | |
| ENST00000637638.1:c.382+9C>G | ENSP00000490774.1:n.382+9C>G | |
| ENST00000637718.1:c.187+9C>G | ENSP00000490133.1:n.187+9C>G | |
| ENST00000637790.2:c.382+9C>G MANE Select | ENSP00000490272.1:n.382+9C>G | |
| ENST00000637805.1:c.*227C>G | ENSP00000489884.1:n.*227C>G | |
| ENST00000637857.1:n.104+9C>G | ||
| ENST00000637872.1:c.196C>G | ENSP00000490432.1:p.His66Asp | |
| ENST00000637922.1:c.187+9C>G | ENSP00000490071.1:n.187+9C>G | |
| ENST00000637991.1:c.430+9C>G | ENSP00000489901.1:n.430+9C>G | |
| ENST00000638069.1:n.438+9C>G | ||
| ENST00000262097.10:c.382+9C>G | ENSP00000262097.6:n.382+9C>G | |
| ENST00000314146.10:c.364+9C>G | ENSP00000326970.10:n.364+9C>G | |
| ENST00000381733.8:c.430+9C>G | ENSP00000371152.4:n.430+9C>G | |
| ENST00000518087.6:n.439C>G | ||
| ENST00000519468.5:n.388+9C>G | ||
| ENST00000519545.5:n.396+9C>G | ||
| ENST00000520781.5:c.382+9C>G | ENSP00000427751.1:n.382+9C>G | |
| ENST00000523593.5:n.235+9C>G | ||
| NM_001127505.1:c.364+9C>G | NP_001120977.1:n.364+9C>G | |
| NM_001127505.2:c.364+9C>G | NP_001120977.1:n.364+9C>G | |
| NM_004315.4:c.430+9C>G | NP_004306.3:n.430+9C>G | |
| NM_004315.5:c.430+9C>G | NP_004306.3:n.430+9C>G | |
| NM_177924.3:c.382+9C>G | NP_808592.2:n.382+9C>G | |
| NM_177924.4:c.382+9C>G | NP_808592.2:n.382+9C>G | |
| XM_005273504.2:c.316+9C>G | XP_005273561.1:n.316+9C>G | |
| NM_001363743.1:c.187+9C>G | NP_001350672.1:n.187+9C>G | |
| XM_005273504.3:c.316+9C>G | XP_005273561.1:n.316+9C>G | |
| NM_177924.5:c.382+9C>G MANE Select | NP_808592.2:n.382+9C>G | |
| NM_001127505.3:c.364+9C>G | NP_001120977.1:n.364+9C>G | |
| NM_001363743.2:c.187+9C>G | NP_001350672.1:n.187+9C>G | |
| NM_004315.6:c.430+9C>G | NP_004306.3:n.430+9C>G |