Linked Data
ClinVar Variation Id:
463437
dbSNP Id:
rs1395650269
gnomAD v2:
17-38787125-C-T
gnomAD v3:
17-40630873-C-T
gnomAD v4:
17-40630873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40630873C>T , CM000679.2:g.40630873C>T | GRCh38 |
| NC_000017.10:g.38787125C>T , CM000679.1:g.38787125C>T | GRCh37 |
| NC_000017.9:g.36040651C>T | NCBI36 |
| NG_032163.1:g.21979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.868G>A | ENSP00000466608.2:p.Ala290Thr | |
| ENST00000348513.12:c.868G>A MANE Select | ENSP00000323967.6:p.Ala290Thr | |
| ENST00000377808.9:c.763G>A | ENSP00000367039.4:p.Ala255Thr | |
| ENST00000400122.8:c.658G>A | ENSP00000411607.2:p.Ala220Thr | |
| ENST00000447024.6:c.868G>A | ENSP00000392958.2:p.Ala290Thr | |
| ENST00000469334.6:n.1466G>A | ||
| ENST00000478349.7:c.820G>A | ENSP00000463216.2:p.Ala274Thr | |
| ENST00000578044.6:c.658G>A | ENSP00000464511.1:p.Ala220Thr | |
| ENST00000578112.6:c.*665G>A | ENSP00000464501.1:n.*665G>A | |
| ENST00000580419.6:c.763G>A | ENSP00000462475.2:p.Ala255Thr | |
| ENST00000642459.1:c.658G>A | ENSP00000496546.1:p.Ala220Thr | |
| ENST00000642576.1:n.2011G>A | ||
| ENST00000643030.1:n.1491G>A | ||
| ENST00000643255.1:c.*2932G>A | ENSP00000493957.1:n.*2932G>A | |
| ENST00000643318.1:c.658G>A | ENSP00000494771.1:p.Ala220Thr | |
| ENST00000643378.1:n.1423G>A | ||
| ENST00000643580.1:n.222G>A | ||
| ENST00000643683.1:c.868G>A | ENSP00000496094.1:p.Ala290Thr | |
| ENST00000643893.1:n.1161G>A | ||
| ENST00000644443.1:n.2756G>A | ||
| ENST00000644523.1:n.914G>A | ||
| ENST00000644527.1:c.658G>A | ENSP00000493974.1:p.Ala220Thr | |
| ENST00000644701.1:c.868G>A | ENSP00000496097.1:p.Ala290Thr | |
| ENST00000644909.1:c.*137G>A | ENSP00000493649.1:n.*137G>A | |
| ENST00000645104.1:c.763G>A | ENSP00000496311.1:p.Ala255Thr | |
| ENST00000645152.1:n.1531G>A | ||
| ENST00000645227.1:c.*477G>A | ENSP00000495021.1:n.*477G>A | |
| ENST00000646242.1:n.5060G>A | ||
| ENST00000646283.1:c.676G>A | ENSP00000494537.1:p.Ala226Thr | |
| ENST00000646401.1:n.2155G>A | ||
| ENST00000646448.1:n.2142G>A | ||
| ENST00000646482.1:c.868G>A | ENSP00000496661.1:p.Ala290Thr | |
| ENST00000646856.1:c.*665G>A | ENSP00000494505.1:n.*665G>A | |
| ENST00000647294.1:c.*798G>A | ENSP00000494815.1:n.*798G>A | |
| ENST00000647508.1:c.763G>A | ENSP00000496445.1:p.Ala255Thr | |
| ENST00000647515.1:c.658G>A | ENSP00000495857.1:p.Ala220Thr | |
| ENST00000264640.8:c.308G>A | ||
| ENST00000348513.10:c.868G>A | ENSP00000323967.6:p.Ala290Thr | |
| ENST00000377808.8:c.763G>A | ENSP00000367039.4:p.Ala255Thr | |
| ENST00000400122.7:c.658G>A | ENSP00000411607.2:p.Ala220Thr | |
| ENST00000431889.6:c.814G>A | ENSP00000445370.1:p.Ala272Thr | |
| ENST00000447024.5:c.250G>A | ENSP00000392958.1:p.Ala84Thr | |
| ENST00000469334.5:n.1455G>A | ||
| ENST00000476049.1:c.*1216G>A | ENSP00000463483.1:n.*1216G>A | |
| ENST00000478349.6:c.820G>A | ENSP00000463216.1:p.Ala274Thr | |
| ENST00000578044.5:c.658G>A | ENSP00000464511.1:p.Ala220Thr | |
| ENST00000578112.5:c.*665G>A | ENSP00000464501.1:n.*665G>A | |
| ENST00000580419.5:c.763G>A | ENSP00000462475.1:p.Ala255Thr | |
| NM_003079.4:c.868G>A | NP_003070.3:p.Ala290Thr | |
| NM_003079.5:c.868G>A MANE Select | NP_003070.3:p.Ala290Thr |