Linked Data
ClinVar Variation Id:
573127
dbSNP Id:
rs1487515718
gnomAD v2:
17-38785051-C-T
gnomAD v4:
17-40628799-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628799C>T , CM000679.2:g.40628799C>T | GRCh38 |
| NC_000017.10:g.38785051C>T , CM000679.1:g.38785051C>T | GRCh37 |
| NC_000017.9:g.36038577C>T | NCBI36 |
| NG_032163.1:g.24053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*784G>A | ENSP00000466608.2:n.*784G>A | |
| ENST00000348513.12:c.1222G>A MANE Select | ENSP00000323967.6:p.Glu408Lys | |
| ENST00000377808.9:c.*209G>A | ENSP00000367039.4:n.*209G>A | |
| ENST00000400122.8:c.*209G>A | ENSP00000411607.2:n.*209G>A | |
| ENST00000469334.6:n.1820G>A | ||
| ENST00000578044.6:c.1012G>A | ENSP00000464511.1:p.Glu338Lys | |
| ENST00000578112.6:c.*1019G>A | ENSP00000464501.1:n.*1019G>A | |
| ENST00000580419.6:c.*201G>A | ENSP00000462475.2:n.*201G>A | |
| ENST00000642576.1:n.2365G>A | ||
| ENST00000643030.1:n.1845G>A | ||
| ENST00000643255.1:c.*3286G>A | ENSP00000493957.1:n.*3286G>A | |
| ENST00000643318.1:c.1012G>A | ENSP00000494771.1:p.Glu338Lys | |
| ENST00000643378.1:n.1777G>A | ||
| ENST00000643683.1:c.1222G>A | ENSP00000496094.1:p.Glu408Lys | |
| ENST00000643893.1:n.1515G>A | ||
| ENST00000644443.1:n.3110G>A | ||
| ENST00000644523.1:n.1268G>A | ||
| ENST00000644527.1:c.994G>A | ENSP00000493974.1:p.Glu332Lys | |
| ENST00000644701.1:c.*209G>A | ENSP00000496097.1:n.*209G>A | |
| ENST00000644909.1:c.*491G>A | ENSP00000493649.1:n.*491G>A | |
| ENST00000645152.1:n.1885G>A | ||
| ENST00000645227.1:c.*910G>A | ENSP00000495021.1:n.*910G>A | |
| ENST00000646242.1:n.7134G>A | ||
| ENST00000646283.1:c.1030G>A | ENSP00000494537.1:p.Glu344Lys | |
| ENST00000646401.1:n.2588G>A | ||
| ENST00000646448.1:n.2496G>A | ||
| ENST00000646856.1:c.*1098G>A | ENSP00000494505.1:n.*1098G>A | |
| ENST00000647294.1:c.*1152G>A | ENSP00000494815.1:n.*1152G>A | |
| ENST00000647508.1:c.1117G>A | ENSP00000496445.1:p.Glu373Lys | |
| ENST00000647515.1:c.*753G>A | ENSP00000495857.1:n.*753G>A | |
| ENST00000348513.10:c.1222G>A | ENSP00000323967.6:p.Glu408Lys | |
| ENST00000377808.8:c.*209G>A | ENSP00000367039.4:n.*209G>A | |
| ENST00000400122.7:c.*209G>A | ENSP00000411607.2:n.*209G>A | |
| ENST00000431889.6:c.1168G>A | ENSP00000445370.1:p.Glu390Lys | |
| ENST00000469334.5:n.1809G>A | ||
| ENST00000476049.1:c.*1570G>A | ENSP00000463483.1:n.*1570G>A | |
| ENST00000578044.5:c.1012G>A | ENSP00000464511.1:p.Glu338Lys | |
| ENST00000578112.5:c.*1019G>A | ENSP00000464501.1:n.*1019G>A | |
| ENST00000580419.5:c.1117G>A | ENSP00000462475.1:p.Glu373Lys | |
| NM_003079.4:c.1222G>A | NP_003070.3:p.Glu408Lys | |
| NM_003079.5:c.1222G>A MANE Select | NP_003070.3:p.Glu408Lys |