Linked Data
ClinVar Variation Id:
296309
dbSNP Id:
rs199943206
ExAC:
1:235602230 C / G
gnomAD v2:
1-235602230-C-G
gnomAD v3:
1-235438915-C-G
gnomAD v4:
1-235438915-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235438915C>G , CM000663.2:g.235438915C>G | GRCh38 |
| NC_000001.10:g.235602230C>G , CM000663.1:g.235602230C>G | GRCh37 |
| NC_000001.9:g.233668853C>G | NCBI36 |
| NG_009230.1:g.76503C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.1074C>G | ENSP00000355560.4:p.Leu358= | |
| ENST00000406207.5:c.1263C>G | ENSP00000384571.1:p.Leu421= | |
| ENST00000472011.6:n.1987C>G | ||
| ENST00000543662.4:c.1416C>G | ENSP00000439170.1:p.Leu472= | |
| ENST00000642339.1:c.*960C>G | ENSP00000495425.1:n.*960C>G | |
| ENST00000642431.1:c.1840C>G | ||
| ENST00000642463.1:c.*1161C>G | ENSP00000495007.1:n.*1161C>G | |
| ENST00000642503.1:c.*1037C>G | ENSP00000494334.1:n.*1037C>G | |
| ENST00000642610.2:c.1263C>G MANE Select | ENSP00000494796.1:p.Leu421= | |
| ENST00000642764.1:n.2094C>G | ||
| ENST00000643125.1:c.*278C>G | ENSP00000494102.1:n.*278C>G | |
| ENST00000643142.1:c.*754C>G | ENSP00000494755.1:n.*754C>G | |
| ENST00000643238.1:c.*283C>G | ENSP00000495916.1:n.*283C>G | |
| ENST00000643410.1:c.*553C>G | ENSP00000495030.1:n.*553C>G | |
| ENST00000643487.1:n.1950C>G | ||
| ENST00000643524.1:c.*848C>G | ENSP00000494026.1:n.*848C>G | |
| ENST00000643615.1:c.*1116+1441C>G | ENSP00000496103.1:n.*1116+1441C>G | |
| ENST00000643993.1:n.1399C>G | ||
| ENST00000643994.1:c.*1263C>G | ENSP00000496322.1:n.*1263C>G | |
| ENST00000644037.1:c.*1473C>G | ENSP00000496408.1:n.*1473C>G | |
| ENST00000644055.1:c.*1888C>G | ENSP00000496307.1:n.*1888C>G | |
| ENST00000644126.1:n.2935C>G | ||
| ENST00000644217.1:c.1263C>G | ENSP00000494646.1:p.Leu421= | |
| ENST00000644265.1:c.632C>G | ||
| ENST00000644578.1:c.1077C>G | ENSP00000495953.1:p.Leu359= | |
| ENST00000644604.1:c.1263C>G | ENSP00000495961.1:p.Leu421= | |
| ENST00000644680.1:c.*1784C>G | ENSP00000496173.1:n.*1784C>G | |
| ENST00000644838.1:c.*646C>G | ENSP00000495910.1:n.*646C>G | |
| ENST00000644910.1:c.1870C>G | ||
| ENST00000645205.1:c.1263C>G | ENSP00000495823.1:p.Leu421= | |
| ENST00000645351.1:c.1263C>G | ENSP00000494319.1:p.Leu421= | |
| ENST00000645551.1:c.*980C>G | ENSP00000495928.1:n.*980C>G | |
| ENST00000645578.1:c.*1037C>G | ENSP00000496495.1:n.*1037C>G | |
| ENST00000645582.1:c.*1093C>G | ENSP00000494980.1:n.*1093C>G | |
| ENST00000645655.1:c.1263C>G | ENSP00000495202.1:p.Leu421= | |
| ENST00000645836.1:c.*1037C>G | ENSP00000493915.1:n.*1037C>G | |
| ENST00000645899.1:c.1263C>G | ENSP00000496773.1:p.Leu421= | |
| ENST00000645964.1:c.*1129C>G | ENSP00000494208.1:n.*1129C>G | |
| ENST00000646104.1:c.*1731C>G | ENSP00000495475.1:n.*1731C>G | |
| ENST00000646186.1:c.*935C>G | ENSP00000493806.1:n.*935C>G | |
| ENST00000646286.1:c.*1156C>G | ENSP00000494291.1:n.*1156C>G | |
| ENST00000646463.1:c.*1028C>G | ENSP00000494541.1:n.*1028C>G | |
| ENST00000646528.1:c.*1979C>G | ENSP00000496553.1:n.*1979C>G | |
| ENST00000646536.1:c.*553C>G | ENSP00000494801.1:n.*553C>G | |
| ENST00000646624.1:c.1263C>G | ENSP00000494575.1:p.Leu421= | |
| ENST00000646821.1:c.*553C>G | ENSP00000495257.1:n.*553C>G | |
| ENST00000646842.1:n.707C>G | ||
| ENST00000646848.1:c.*478C>G | ENSP00000495831.1:n.*478C>G | |
| ENST00000647186.1:c.1263C>G | ENSP00000494775.1:p.Leu421= | |
| ENST00000647233.1:n.2243C>G | ||
| ENST00000647322.1:c.854C>G | ||
| ENST00000647418.1:c.*1037C>G | ENSP00000493552.1:n.*1037C>G | |
| ENST00000647428.1:c.924C>G | ENSP00000495630.1:p.Leu308= | |
| ENST00000651186.1:c.924C>G | ENSP00000498645.1:p.Leu308= | |
| ENST00000366601.7:c.1263C>G | ENSP00000355560.3:p.Leu421= | |
| ENST00000406207.4:c.1263C>G | ENSP00000384571.1:p.Leu421= | |
| ENST00000472011.5:n.1315C>G | ||
| ENST00000543662.3:c.1416C>G | ENSP00000439170.1:p.Leu472= | |
| NM_001079515.2:c.1263C>G | NP_001072983.1:p.Leu421= | |
| NM_001287801.1:c.1416C>G | NP_001274730.1:p.Leu472= | |
| NM_001287802.1:c.924C>G | NP_001274731.1:p.Leu308= | |
| NM_003193.4:c.1263C>G | NP_003184.1:p.Leu421= | |
| NM_003193.5:c.1263C>G MANE Select | NP_003184.1:p.Leu421= | |
| NM_001079515.3:c.1263C>G | NP_001072983.1:p.Leu421= | |
| NM_001287801.2:c.1416C>G | NP_001274730.1:p.Leu472= | |
| NM_001287802.2:c.924C>G | NP_001274731.1:p.Leu308= |