Linked Data
ClinVar Variation Id:
1751150
ClinVar RCV Id:
RCV002358137
dbSNP Id:
rs1174090833
gnomAD v2:
17-38785059-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628807G>A , CM000679.2:g.40628807G>A | GRCh38 |
| NC_000017.10:g.38785059G>A , CM000679.1:g.38785059G>A | GRCh37 |
| NC_000017.9:g.36038585G>A | NCBI36 |
| NG_032163.1:g.24045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*776C>T | ENSP00000466608.2:n.*776C>T | |
| ENST00000348513.12:c.1214C>T MANE Select | ENSP00000323967.6:p.Pro405Leu | |
| ENST00000377808.9:c.*201C>T | ENSP00000367039.4:n.*201C>T | |
| ENST00000400122.8:c.*201C>T | ENSP00000411607.2:n.*201C>T | |
| ENST00000469334.6:n.1812C>T | ||
| ENST00000578044.6:c.1004C>T | ENSP00000464511.1:p.Pro335Leu | |
| ENST00000578112.6:c.*1011C>T | ENSP00000464501.1:n.*1011C>T | |
| ENST00000580419.6:c.*193C>T | ENSP00000462475.2:n.*193C>T | |
| ENST00000642576.1:n.2357C>T | ||
| ENST00000643030.1:n.1837C>T | ||
| ENST00000643255.1:c.*3278C>T | ENSP00000493957.1:n.*3278C>T | |
| ENST00000643318.1:c.1004C>T | ENSP00000494771.1:p.Pro335Leu | |
| ENST00000643378.1:n.1769C>T | ||
| ENST00000643683.1:c.1214C>T | ENSP00000496094.1:p.Pro405Leu | |
| ENST00000643893.1:n.1507C>T | ||
| ENST00000644443.1:n.3102C>T | ||
| ENST00000644523.1:n.1260C>T | ||
| ENST00000644527.1:c.986C>T | ENSP00000493974.1:p.Pro329Leu | |
| ENST00000644701.1:c.*201C>T | ENSP00000496097.1:n.*201C>T | |
| ENST00000644909.1:c.*483C>T | ENSP00000493649.1:n.*483C>T | |
| ENST00000645152.1:n.1877C>T | ||
| ENST00000645227.1:c.*902C>T | ENSP00000495021.1:n.*902C>T | |
| ENST00000646242.1:n.7126C>T | ||
| ENST00000646283.1:c.1022C>T | ENSP00000494537.1:p.Pro341Leu | |
| ENST00000646401.1:n.2580C>T | ||
| ENST00000646448.1:n.2488C>T | ||
| ENST00000646856.1:c.*1090C>T | ENSP00000494505.1:n.*1090C>T | |
| ENST00000647294.1:c.*1144C>T | ENSP00000494815.1:n.*1144C>T | |
| ENST00000647508.1:c.1109C>T | ENSP00000496445.1:p.Pro370Leu | |
| ENST00000647515.1:c.*745C>T | ENSP00000495857.1:n.*745C>T | |
| ENST00000348513.10:c.1214C>T | ENSP00000323967.6:p.Pro405Leu | |
| ENST00000377808.8:c.*201C>T | ENSP00000367039.4:n.*201C>T | |
| ENST00000400122.7:c.*201C>T | ENSP00000411607.2:n.*201C>T | |
| ENST00000431889.6:c.1160C>T | ENSP00000445370.1:p.Pro387Leu | |
| ENST00000469334.5:n.1801C>T | ||
| ENST00000476049.1:c.*1562C>T | ENSP00000463483.1:n.*1562C>T | |
| ENST00000578044.5:c.1004C>T | ENSP00000464511.1:p.Pro335Leu | |
| ENST00000578112.5:c.*1011C>T | ENSP00000464501.1:n.*1011C>T | |
| ENST00000580419.5:c.1109C>T | ENSP00000462475.1:p.Pro370Leu | |
| NM_003079.4:c.1214C>T | NP_003070.3:p.Pro405Leu | |
| NM_003079.5:c.1214C>T MANE Select | NP_003070.3:p.Pro405Leu |