Linked Data
ClinVar Variation Id:
407070
dbSNP Id:
rs542193901
ExAC:
17:38787893 T / C
gnomAD v2:
17-38787893-T-C
gnomAD v3:
17-40631641-T-C
gnomAD v4:
17-40631641-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40631641T>C , CM000679.2:g.40631641T>C | GRCh38 |
| NC_000017.10:g.38787893T>C , CM000679.1:g.38787893T>C | GRCh37 |
| NC_000017.9:g.36041419T>C | NCBI36 |
| NG_032163.1:g.21211A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.767A>G | ENSP00000466608.2:p.Lys256Arg | |
| ENST00000348513.12:c.767A>G MANE Select | ENSP00000323967.6:p.Lys256Arg | |
| ENST00000377808.9:c.662A>G | ENSP00000367039.4:p.Lys221Arg | |
| ENST00000400122.8:c.557A>G | ENSP00000411607.2:p.Lys186Arg | |
| ENST00000447024.6:c.767A>G | ENSP00000392958.2:p.Lys256Arg | |
| ENST00000469334.6:n.1365A>G | ||
| ENST00000478349.7:c.719A>G | ENSP00000463216.2:p.Lys240Arg | |
| ENST00000578044.6:c.557A>G | ENSP00000464511.1:p.Lys186Arg | |
| ENST00000578112.6:c.*564A>G | ENSP00000464501.1:n.*564A>G | |
| ENST00000580419.6:c.662A>G | ENSP00000462475.2:p.Lys221Arg | |
| ENST00000580654.6:c.713A>G | ENSP00000464061.2:p.Lys238Arg | |
| ENST00000642459.1:c.557A>G | ENSP00000496546.1:p.Lys186Arg | |
| ENST00000642576.1:n.1243A>G | ||
| ENST00000643030.1:n.723A>G | ||
| ENST00000643255.1:c.*2831A>G | ENSP00000493957.1:n.*2831A>G | |
| ENST00000643318.1:c.557A>G | ENSP00000494771.1:p.Lys186Arg | |
| ENST00000643378.1:n.1322A>G | ||
| ENST00000643580.1:n.121A>G | ||
| ENST00000643683.1:c.767A>G | ENSP00000496094.1:p.Lys256Arg | |
| ENST00000643893.1:n.1060A>G | ||
| ENST00000644443.1:n.1988A>G | ||
| ENST00000644523.1:n.813A>G | ||
| ENST00000644527.1:c.557A>G | ENSP00000493974.1:p.Lys186Arg | |
| ENST00000644701.1:c.767A>G | ENSP00000496097.1:p.Lys256Arg | |
| ENST00000644909.1:c.*36A>G | ENSP00000493649.1:n.*36A>G | |
| ENST00000645104.1:c.662A>G | ENSP00000496311.1:p.Lys221Arg | |
| ENST00000645152.1:n.763A>G | ||
| ENST00000645227.1:c.*376A>G | ENSP00000495021.1:n.*376A>G | |
| ENST00000646242.1:n.4959A>G | ||
| ENST00000646283.1:c.575A>G | ENSP00000494537.1:p.Lys192Arg | |
| ENST00000646401.1:n.1387A>G | ||
| ENST00000646448.1:n.1374A>G | ||
| ENST00000646482.1:c.767A>G | ENSP00000496661.1:p.Lys256Arg | |
| ENST00000646856.1:c.*564A>G | ENSP00000494505.1:n.*564A>G | |
| ENST00000647294.1:c.*697A>G | ENSP00000494815.1:n.*697A>G | |
| ENST00000647508.1:c.662A>G | ENSP00000496445.1:p.Lys221Arg | |
| ENST00000647515.1:c.557A>G | ENSP00000495857.1:p.Lys186Arg | |
| ENST00000264640.8:c.207A>G | ||
| ENST00000348513.10:c.767A>G | ENSP00000323967.6:p.Lys256Arg | |
| ENST00000377808.8:c.662A>G | ENSP00000367039.4:p.Lys221Arg | |
| ENST00000400122.7:c.557A>G | ENSP00000411607.2:p.Lys186Arg | |
| ENST00000431889.6:c.713A>G | ENSP00000445370.1:p.Lys238Arg | |
| ENST00000447024.5:c.149A>G | ENSP00000392958.1:p.Lys50Arg | |
| ENST00000469334.5:n.1354A>G | ||
| ENST00000476049.1:c.*1115A>G | ENSP00000463483.1:n.*1115A>G | |
| ENST00000478349.6:c.719A>G | ENSP00000463216.1:p.Lys240Arg | |
| ENST00000578044.5:c.557A>G | ENSP00000464511.1:p.Lys186Arg | |
| ENST00000578112.5:c.*564A>G | ENSP00000464501.1:n.*564A>G | |
| ENST00000580419.5:c.662A>G | ENSP00000462475.1:p.Lys221Arg | |
| NM_003079.4:c.767A>G | NP_003070.3:p.Lys256Arg | |
| NM_003079.5:c.767A>G MANE Select | NP_003070.3:p.Lys256Arg |