Linked Data
ClinVar Variation Id:
1403668
ClinVar RCV Id:
RCV001909170
dbSNP Id:
rs758595837
ExAC:
17:38785108 A / G
gnomAD v2:
17-38785108-A-G
gnomAD v4:
17-40628856-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628856A>G , CM000679.2:g.40628856A>G | GRCh38 |
| NC_000017.10:g.38785108A>G , CM000679.1:g.38785108A>G | GRCh37 |
| NC_000017.9:g.36038634A>G | NCBI36 |
| NG_032163.1:g.23996T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*727T>C | ENSP00000466608.2:n.*727T>C | |
| ENST00000348513.12:c.1165T>C MANE Select | ENSP00000323967.6:p.Ser389Pro | |
| ENST00000377808.9:c.*152T>C | ENSP00000367039.4:n.*152T>C | |
| ENST00000400122.8:c.*152T>C | ENSP00000411607.2:n.*152T>C | |
| ENST00000469334.6:n.1763T>C | ||
| ENST00000578044.6:c.955T>C | ENSP00000464511.1:p.Ser319Pro | |
| ENST00000578112.6:c.*962T>C | ENSP00000464501.1:n.*962T>C | |
| ENST00000580419.6:c.*144T>C | ENSP00000462475.2:n.*144T>C | |
| ENST00000642576.1:n.2308T>C | ||
| ENST00000643030.1:n.1788T>C | ||
| ENST00000643255.1:c.*3229T>C | ENSP00000493957.1:n.*3229T>C | |
| ENST00000643318.1:c.955T>C | ENSP00000494771.1:p.Ser319Pro | |
| ENST00000643378.1:n.1720T>C | ||
| ENST00000643683.1:c.1165T>C | ENSP00000496094.1:p.Ser389Pro | |
| ENST00000643893.1:n.1458T>C | ||
| ENST00000644443.1:n.3053T>C | ||
| ENST00000644523.1:n.1211T>C | ||
| ENST00000644527.1:c.937T>C | ENSP00000493974.1:p.Ser313Pro | |
| ENST00000644701.1:c.*152T>C | ENSP00000496097.1:n.*152T>C | |
| ENST00000644909.1:c.*434T>C | ENSP00000493649.1:n.*434T>C | |
| ENST00000645152.1:n.1828T>C | ||
| ENST00000645227.1:c.*853T>C | ENSP00000495021.1:n.*853T>C | |
| ENST00000646242.1:n.7077T>C | ||
| ENST00000646283.1:c.973T>C | ENSP00000494537.1:p.Ser325Pro | |
| ENST00000646401.1:n.2531T>C | ||
| ENST00000646448.1:n.2439T>C | ||
| ENST00000646856.1:c.*1041T>C | ENSP00000494505.1:n.*1041T>C | |
| ENST00000647294.1:c.*1095T>C | ENSP00000494815.1:n.*1095T>C | |
| ENST00000647508.1:c.1060T>C | ENSP00000496445.1:p.Ser354Pro | |
| ENST00000647515.1:c.*696T>C | ENSP00000495857.1:n.*696T>C | |
| ENST00000348513.10:c.1165T>C | ENSP00000323967.6:p.Ser389Pro | |
| ENST00000377808.8:c.*152T>C | ENSP00000367039.4:n.*152T>C | |
| ENST00000400122.7:c.*152T>C | ENSP00000411607.2:n.*152T>C | |
| ENST00000431889.6:c.1111T>C | ENSP00000445370.1:p.Ser371Pro | |
| ENST00000469334.5:n.1752T>C | ||
| ENST00000476049.1:c.*1513T>C | ENSP00000463483.1:n.*1513T>C | |
| ENST00000578044.5:c.955T>C | ENSP00000464511.1:p.Ser319Pro | |
| ENST00000578112.5:c.*962T>C | ENSP00000464501.1:n.*962T>C | |
| ENST00000580419.5:c.1060T>C | ENSP00000462475.1:p.Ser354Pro | |
| NM_003079.4:c.1165T>C | NP_003070.3:p.Ser389Pro | |
| NM_003079.5:c.1165T>C MANE Select | NP_003070.3:p.Ser389Pro |