Linked Data
ClinVar Variation Id:
380525
dbSNP Id:
rs111553864
ExAC:
2:220371162 C / T
gnomAD v2:
2-220371162-C-T
gnomAD v3:
2-219506440-C-T
gnomAD v4:
2-219506440-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219506440C>T , CM000664.2:g.219506440C>T | GRCh38 |
| NC_000002.11:g.220371162C>T , CM000664.1:g.220371162C>T | GRCh37 |
| NC_000002.10:g.220079406C>T | NCBI36 |
| NG_033833.1:g.12576C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341142.8:c.1162+18C>T (GMPPA) | ENSP00000340760.3:n.1162+18C>T | |
| ENST00000455657.6:c.*437+18C>T (GMPPA) | ENSP00000392465.3:n.*437+18C>T | |
| ENST00000496536.2:n.1171+18C>T (GMPPA) | ||
| ENST00000622191.2:c.1162+18C>T (GMPPA) | ENSP00000478700.2:n.1162+18C>T | |
| ENST00000682058.1:c.*1193+18C>T (GMPPA) | ENSP00000507378.1:n.*1193+18C>T | |
| ENST00000682102.1:c.*402+18C>T (GMPPA) | ENSP00000508279.1:n.*402+18C>T | |
| ENST00000682340.1:n.2795+18C>T (GMPPA) | ||
| ENST00000682435.1:n.1766+18C>T (GMPPA) | ||
| ENST00000682443.1:n.2448+18C>T (GMPPA) | ||
| ENST00000682481.1:c.*1447+18C>T (GMPPA) | ENSP00000507331.1:n.*1447+18C>T | |
| ENST00000682488.1:c.70-284C>T (GMPPA) | ENSP00000507140.1:n.70-284C>T | |
| ENST00000682576.1:c.*1210+18C>T (GMPPA) | ENSP00000508370.1:n.*1210+18C>T | |
| ENST00000683106.1:n.2559+18C>T (GMPPA) | ||
| ENST00000683131.1:c.*1447+18C>T (GMPPA) | ENSP00000507530.1:n.*1447+18C>T | |
| ENST00000683241.1:n.1547+18C>T (GMPPA) | ||
| ENST00000683382.1:n.2424+18C>T (GMPPA) | ||
| ENST00000683386.1:c.*792+18C>T (GMPPA) | ENSP00000507844.1:n.*792+18C>T | |
| ENST00000683402.1:c.*543+18C>T (GMPPA) | ENSP00000507137.1:n.*543+18C>T | |
| ENST00000683591.1:c.*1193+18C>T (GMPPA) | ENSP00000508406.1:n.*1193+18C>T | |
| ENST00000683598.1:c.*1193+18C>T (GMPPA) | ENSP00000508168.1:n.*1193+18C>T | |
| ENST00000683617.1:n.2280+18C>T (GMPPA) | ||
| ENST00000683626.1:c.*1806+18C>T (GMPPA) | ENSP00000507216.1:n.*1806+18C>T | |
| ENST00000683691.1:c.*1073+18C>T (GMPPA) | ENSP00000508392.1:n.*1073+18C>T | |
| ENST00000683746.1:n.2112+18C>T (GMPPA) | ||
| ENST00000683752.1:c.811+18C>T (GMPPA) | ENSP00000507197.1:n.811+18C>T | |
| ENST00000683864.1:c.*1942+18C>T (GMPPA) | ENSP00000507147.1:n.*1942+18C>T | |
| ENST00000683946.1:c.1162+18C>T (GMPPA) | ENSP00000506941.1:n.1162+18C>T | |
| ENST00000684227.1:c.*1213+18C>T (GMPPA) | ENSP00000507190.1:n.*1213+18C>T | |
| ENST00000684242.1:n.2217+18C>T (GMPPA) | ||
| ENST00000684274.1:n.1532+18C>T (GMPPA) | ||
| ENST00000684334.1:n.2624+18C>T (GMPPA) | ||
| ENST00000684562.1:n.2202+18C>T (GMPPA) | ||
| ENST00000684706.1:n.1226+18C>T (GMPPA) | ||
| ENST00000684729.1:c.*1213+18C>T (GMPPA) | ENSP00000507441.1:n.*1213+18C>T | |
| ENST00000313597.10:c.1162+18C>T (GMPPA) MANE Select | ENSP00000315925.6:n.1162+18C>T | |
| ENST00000313597.9:c.1162+18C>T (GMPPA) | ENSP00000315925.5:n.1162+18C>T | |
| ENST00000341142.7:c.1162+18C>T (GMPPA) | ENSP00000340760.3:n.1162+18C>T | |
| ENST00000358215.8:c.1162+18C>T (GMPPA) | ENSP00000350949.3:n.1162+18C>T | |
| ENST00000373908.5:c.1162+18C>T (GMPPA) | ENSP00000363016.1:n.1162+18C>T | |
| ENST00000373917.7:c.1321+18C>T (GMPPA) | ENSP00000363027.3:n.1321+18C>T | |
| ENST00000443704.5:c.*309+18C>T (GMPPA) | ENSP00000396750.1:n.*309+18C>T | |
| ENST00000480034.1:c.317C>T (GMPPA) | ||
| ENST00000481170.1:n.4395C>T (GMPPA) | ||
| ENST00000622191.1:c.1161+18C>T (GMPPA) | ENSP00000478700.1:n.1161+18C>T | |
| NM_013335.3:c.1162+18C>T (GMPPA) | NP_037467.2:n.1162+18C>T | |
| NM_205847.2:c.1162+18C>T (GMPPA) | NP_995319.1:n.1162+18C>T | |
| XM_005246483.2:c.1177+18C>T (GMPPA) | XP_005246540.1:n.1177+18C>T | |
| XM_005246485.2:c.1177+18C>T (GMPPA) | XP_005246542.1:n.1177+18C>T | |
| XM_005246486.2:c.1162+18C>T (GMPPA) | XP_005246543.1:n.1162+18C>T | |
| XM_011511032.1:c.1177+18C>T (GMPPA) | XP_011509334.1:n.1177+18C>T | |
| XM_011511033.1:c.802+18C>T (GMPPA) | XP_011509335.1:n.802+18C>T | |
| XR_241307.2:n.1276+18C>T (GMPPA) | ||
| XR_923921.1:n.352+10256G>A (ASIC4-AS1) | ||
| XM_005246486.3:c.1162+18C>T (GMPPA) | XP_005246543.1:n.1162+18C>T | |
| XM_024452823.1:c.1162+18C>T (GMPPA) | XP_024308591.1:n.1162+18C>T | |
| XR_923921.2:n.391+10256G>A (ASIC4-AS1) | ||
| NM_001374294.1:c.1162+18C>T (GMPPA) | NP_001361223.1:n.1162+18C>T | |
| NM_001374295.1:c.1162+18C>T (GMPPA) | NP_001361224.1:n.1162+18C>T | |
| NM_013335.4:c.1162+18C>T (GMPPA) MANE Select | NP_037467.2:n.1162+18C>T | |
| NM_205847.3:c.1162+18C>T (GMPPA) | NP_995319.1:n.1162+18C>T |