Linked Data
dbSNP Id:
rs980206781
gnomAD v2:
2-242690678-C-G
gnomAD v3:
2-241751263-C-G
gnomAD v4:
2-241751263-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241751263C>G , CM000664.2:g.241751263C>G | GRCh38 |
| NC_000002.11:g.242690678C>G , CM000664.1:g.242690678C>G | GRCh37 |
| NC_000002.10:g.242339351C>G | NCBI36 |
| NG_012012.1:g.21649C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1015C>G MANE Select | ENSP00000315351.4:p.Leu339Val | |
| ENST00000321264.8:c.1015C>G | ENSP00000315351.4:p.Leu339Val | |
| ENST00000400769.6:c.854-4586C>G | ENSP00000383580.2:n.854-4586C>G | |
| ENST00000403782.5:c.613C>G | ENSP00000384723.1:p.Leu205Val | |
| ENST00000432449.1:c.275C>G | ||
| ENST00000436747.5:c.*1331C>G | ENSP00000400212.1:n.*1331C>G | |
| ENST00000454048.1:c.118C>G | ENSP00000404596.1:p.Leu40Val | |
| ENST00000467427.5:n.389+969C>G | ||
| ENST00000470343.5:n.496C>G | ||
| ENST00000473126.1:n.214C>G | ||
| ENST00000486953.5:n.163+969C>G | ||
| ENST00000496252.5:n.370C>G | ||
| NM_001287249.1:c.613C>G | NP_001274178.1:p.Leu205Val | |
| NM_152783.4:c.1015C>G | NP_689996.4:p.Leu339Val | |
| NR_109778.1:n.1063-4586C>G | ||
| XM_011511734.1:c.1093C>G | XP_011510036.1:p.Leu365Val | |
| XM_011511735.1:c.1093C>G | XP_011510037.1:p.Leu365Val | |
| XM_011511736.1:c.1015C>G | XP_011510038.1:p.Leu339Val | |
| XM_011511737.1:c.1093C>G | XP_011510039.1:p.Leu365Val | |
| XM_011511742.1:c.1230C>G | XP_011510044.1:p.Ser410= | |
| XM_011511743.1:c.1230C>G | XP_011510045.1:p.Ser410= | |
| XM_011511744.1:c.1230C>G | XP_011510046.1:p.Ser410= | |
| XM_011511745.1:c.1093C>G | XP_011510047.1:p.Leu365Val | |
| XM_011511748.1:c.1164C>G | XP_011510050.1:p.Ser388= | |
| XM_011511749.1:c.1179+969C>G | XP_011510051.1:n.1179+969C>G | |
| XM_011511750.1:c.1093C>G | XP_011510052.1:p.Leu365Val | |
| XM_011511751.1:c.1212+684C>G | XP_011510053.1:n.1212+684C>G | |
| XM_011511753.1:c.1075+969C>G | XP_011510055.1:n.1075+969C>G | |
| XM_011511754.1:c.532C>G | XP_011510056.1:p.Leu178Val | |
| XM_011511755.1:c.523C>G | XP_011510057.1:p.Leu175Val | |
| XM_011511756.1:c.853+6386C>G | XP_011510058.1:n.853+6386C>G | |
| XM_011511757.1:c.*31C>G | XP_011510059.1:n.*31C>G | |
| XR_241434.3:n.1354C>G | ||
| XR_923003.1:n.1876C>G | ||
| XR_923004.1:n.1647C>G | ||
| XR_923005.1:n.1390C>G | ||
| XR_923006.1:n.1390C>G | ||
| XR_923007.1:n.1357C>G | ||
| XR_923008.1:n.1253C>G | ||
| XR_923009.1:n.1253C>G | ||
| XR_923010.1:n.1687C>G | ||
| XR_923011.1:n.1458C>G | ||
| XR_923012.1:n.1392C>G | ||
| XR_923014.1:n.1014-4586C>G | ||
| NM_001352824.1:c.454C>G | NP_001339753.1:p.Leu152Val | |
| XM_011511734.2:c.1093C>G | XP_011510036.1:p.Leu365Val | |
| XM_011511735.2:c.1093C>G | XP_011510037.1:p.Leu365Val | |
| XM_011511736.2:c.1015C>G | XP_011510038.1:p.Leu339Val | |
| XM_011511737.3:c.1093C>G | XP_011510039.1:p.Leu365Val | |
| XM_011511743.2:c.1230C>G | XP_011510045.1:p.Ser410= | |
| XM_011511744.2:c.1230C>G | XP_011510046.1:p.Ser410= | |
| XM_011511745.3:c.1093C>G | XP_011510047.1:p.Leu365Val | |
| XM_011511749.3:c.1179+969C>G | XP_011510051.1:n.1179+969C>G | |
| XM_011511750.3:c.1093C>G | XP_011510052.1:p.Leu365Val | |
| XM_011511751.2:c.1212+684C>G | XP_011510053.1:n.1212+684C>G | |
| XM_011511753.3:c.1075+969C>G | XP_011510055.1:n.1075+969C>G | |
| XM_011511756.2:c.853+6386C>G | XP_011510058.1:n.853+6386C>G | |
| XM_011511757.3:c.*31C>G | XP_011510059.1:n.*31C>G | |
| XM_017004828.2:c.1015C>G | XP_016860317.1:p.Leu339Val | |
| XM_017004829.2:c.1230C>G | XP_016860318.1:p.Ser410= | |
| XM_017004830.2:c.1093C>G | XP_016860319.1:p.Leu365Val | |
| XM_024453102.1:c.865C>G | XP_024308870.1:p.Leu289Val | |
| XR_001738918.2:n.1389C>G | ||
| XR_001738919.2:n.1323C>G | ||
| XR_002959334.1:n.1875C>G | ||
| XR_002959335.1:n.1519C>G | ||
| XR_241434.4:n.1353C>G | ||
| XR_923004.3:n.1646C>G | ||
| XR_923005.2:n.1389C>G | ||
| XR_923007.3:n.1356C>G | ||
| XR_923009.2:n.1252C>G | ||
| XR_923010.2:n.1686C>G | ||
| XR_923011.3:n.1457C>G | ||
| XR_923012.2:n.1391C>G | ||
| XR_923014.3:n.1013-4586C>G | ||
| NM_152783.5:c.1015C>G MANE Select | NP_689996.4:p.Leu339Val | |
| NM_001287249.2:c.613C>G | NP_001274178.1:p.Leu205Val | |
| NM_001352824.2:c.454C>G | NP_001339753.1:p.Leu152Val | |
| NR_109778.2:n.1012-4586C>G |