Linked Data
ClinVar Variation Id:
424845
dbSNP Id:
rs777849213
ExAC:
10:71158514 G / A
gnomAD v2:
10-71158514-G-A
gnomAD v4:
10-69398758-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69398758G>A , CM000672.2:g.69398758G>A | GRCh38 |
| NC_000010.10:g.71158514G>A , CM000672.1:g.71158514G>A | GRCh37 |
| NC_000010.9:g.70828520G>A | NCBI36 |
| NG_012077.1:g.133759G>A , LRG_365:g.133759G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470050.2:c.2376-2233G>A | ENSP00000515580.1:n.2376-2233G>A | |
| ENST00000703945.1:c.2455G>A | ENSP00000515578.1:p.Glu819Lys | |
| ENST00000703946.1:c.1585G>A | ENSP00000515579.1:p.Glu529Lys | |
| ENST00000703947.1:c.2149G>A | ENSP00000515581.1:p.Glu717Lys | |
| ENST00000703948.1:c.*2156G>A | ENSP00000515582.1:n.*2156G>A | |
| ENST00000703949.1:c.2383G>A | ENSP00000515583.1:p.Glu795Lys | |
| ENST00000703950.1:c.1936-2233G>A | ENSP00000515584.1:n.1936-2233G>A | |
| ENST00000703951.1:c.1266-2233G>A | ENSP00000515585.1:n.1266-2233G>A | |
| ENST00000703952.1:c.1429G>A | ENSP00000515586.1:p.Glu477Lys | |
| ENST00000703953.1:c.*1299-2233G>A | ENSP00000515587.1:n.*1299-2233G>A | |
| ENST00000703954.1:c.2419G>A | ENSP00000515588.1:p.Glu807Lys | |
| ENST00000703955.1:n.3089G>A | ||
| ENST00000298649.8:c.2536G>A | ENSP00000298649.3:p.Glu846Lys | |
| ENST00000359426.7:c.2539G>A MANE Select | ENSP00000352398.6:p.Glu847Lys | |
| ENST00000436817.6:c.2551G>A | ENSP00000415949.2:p.Glu851Lys | |
| ENST00000493591.6:c.*2427G>A | ENSP00000494917.1:n.*2427G>A | |
| ENST00000643399.2:c.2551G>A MANE Plus Clinical | ENSP00000494664.1:p.Glu851Lys | |
| ENST00000298649.7:c.2536G>A | ENSP00000298649.3:p.Glu846Lys | |
| ENST00000359426.6:c.2539G>A | ENSP00000352398.6:p.Glu847Lys | |
| ENST00000360289.6:c.2503G>A | ENSP00000353433.2:p.Glu835Lys | |
| ENST00000448642.6:c.2551G>A | ENSP00000402103.3:p.Glu851Lys | |
| ENST00000470050.1:n.187-2233G>A | ||
| NM_000188.2:c.2539G>A | NP_000179.2:p.Glu847Lys | |
| NM_033496.2:c.2536G>A | NP_277031.1:p.Glu846Lys | |
| NM_033497.2:c.2551G>A | NP_277032.1:p.Glu851Lys | |
| NM_033498.2:c.2551G>A | NP_277033.1:p.Glu851Lys | |
| NM_033500.2:c.2503G>A , LRG_365t1:c.2503G>A | NP_277035.2:p.Glu835Lys | |
| XM_005269735.2:c.2668G>A | XP_005269792.1:p.Glu890Lys | |
| XM_005269736.1:c.2551G>A | XP_005269793.1:p.Glu851Lys | |
| XM_005269737.1:c.2455G>A | XP_005269794.1:p.Glu819Lys | |
| XM_011539732.1:c.2503G>A | XP_011538034.1:p.Glu835Lys | |
| XM_011539733.1:c.2497G>A | XP_011538035.1:p.Glu833Lys | |
| XM_011539734.1:c.2494G>A | XP_011538036.1:p.Glu832Lys | |
| NM_001322364.1:c.2551G>A | NP_001309293.1:p.Glu851Lys | |
| NM_001322365.1:c.2644G>A | NP_001309294.1:p.Glu882Lys | |
| NM_001322366.1:c.2455G>A | NP_001309295.1:p.Glu819Lys | |
| NM_001322367.1:c.2443G>A | NP_001309296.1:p.Glu815Lys | |
| NM_001358263.1:c.2551G>A MANE Plus Clinical | NP_001345192.1:p.Glu851Lys | |
| XM_024447969.1:c.2551G>A | XP_024303737.1:p.Glu851Lys | |
| NM_000188.3:c.2539G>A MANE Select | NP_000179.2:p.Glu847Lys | |
| NM_001322364.2:c.2551G>A | NP_001309293.1:p.Glu851Lys | |
| NM_001322365.2:c.2644G>A | NP_001309294.1:p.Glu882Lys | |
| NM_033496.3:c.2536G>A | NP_277031.1:p.Glu846Lys | |
| NM_033497.3:c.2551G>A | NP_277032.1:p.Glu851Lys | |
| NM_033498.3:c.2551G>A | NP_277033.1:p.Glu851Lys |