Linked Data
dbSNP Id:
rs996920409
gnomAD v2:
17-38785016-A-G
gnomAD v3:
17-40628764-A-G
gnomAD v4:
17-40628764-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628764A>G , CM000679.2:g.40628764A>G | GRCh38 |
| NC_000017.10:g.38785016A>G , CM000679.1:g.38785016A>G | GRCh37 |
| NC_000017.9:g.36038542A>G | NCBI36 |
| NG_032163.1:g.24088T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*819T>C | ENSP00000466608.2:n.*819T>C | |
| ENST00000348513.12:c.*21T>C MANE Select | ENSP00000323967.6:n.*21T>C | |
| ENST00000377808.9:c.*244T>C | ENSP00000367039.4:n.*244T>C | |
| ENST00000400122.8:c.*244T>C | ENSP00000411607.2:n.*244T>C | |
| ENST00000469334.6:n.1855T>C | ||
| ENST00000578112.6:c.*1054T>C | ENSP00000464501.1:n.*1054T>C | |
| ENST00000580419.6:c.*236T>C | ENSP00000462475.2:n.*236T>C | |
| ENST00000642576.1:n.2400T>C | ||
| ENST00000643030.1:n.1880T>C | ||
| ENST00000643255.1:c.*3321T>C | ENSP00000493957.1:n.*3321T>C | |
| ENST00000643318.1:c.*21T>C | ENSP00000494771.1:n.*21T>C | |
| ENST00000643378.1:n.1812T>C | ||
| ENST00000643683.1:c.*21T>C | ENSP00000496094.1:n.*21T>C | |
| ENST00000643893.1:n.1550T>C | ||
| ENST00000644443.1:n.3145T>C | ||
| ENST00000644523.1:n.1303T>C | ||
| ENST00000644527.1:c.*21T>C | ENSP00000493974.1:n.*21T>C | |
| ENST00000644701.1:c.*244T>C | ENSP00000496097.1:n.*244T>C | |
| ENST00000644909.1:c.*526T>C | ENSP00000493649.1:n.*526T>C | |
| ENST00000645152.1:n.1920T>C | ||
| ENST00000645227.1:c.*945T>C | ENSP00000495021.1:n.*945T>C | |
| ENST00000646242.1:n.7169T>C | ||
| ENST00000646283.1:c.*21T>C | ENSP00000494537.1:n.*21T>C | |
| ENST00000646401.1:n.2623T>C | ||
| ENST00000646856.1:c.*1133T>C | ENSP00000494505.1:n.*1133T>C | |
| ENST00000647294.1:c.*1187T>C | ENSP00000494815.1:n.*1187T>C | |
| ENST00000647508.1:c.*21T>C | ENSP00000496445.1:n.*21T>C | |
| ENST00000647515.1:c.*788T>C | ENSP00000495857.1:n.*788T>C | |
| ENST00000348513.10:c.*21T>C | ENSP00000323967.6:n.*21T>C | |
| ENST00000431889.6:c.*21T>C | ENSP00000445370.1:n.*21T>C | |
| ENST00000469334.5:n.1844T>C | ||
| ENST00000578112.5:c.*1054T>C | ENSP00000464501.1:n.*1054T>C | |
| NM_003079.4:c.*21T>C | NP_003070.3:n.*21T>C | |
| NM_003079.5:c.*21T>C MANE Select | NP_003070.3:n.*21T>C |