Linked Data
ClinVar Variation Id:
474674
dbSNP Id:
rs773715630
ExAC:
2:220368907 T / C
gnomAD v2:
2-220368907-T-C
gnomAD v3:
2-219504185-T-C
gnomAD v4:
2-219504185-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219504185T>C , CM000664.2:g.219504185T>C | GRCh38 |
| NC_000002.11:g.220368907T>C , CM000664.1:g.220368907T>C | GRCh37 |
| NC_000002.10:g.220077151T>C | NCBI36 |
| NG_033833.1:g.10321T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341142.8:c.592T>C (GMPPA) | ENSP00000340760.3:p.Phe198Leu | |
| ENST00000435316.6:c.487T>C (GMPPA) | ENSP00000411060.1:p.Phe163Leu | |
| ENST00000455657.6:c.592T>C (GMPPA) | ENSP00000392465.3:p.Phe198Leu | |
| ENST00000480506.6:n.913T>C (GMPPA) | ||
| ENST00000496536.2:n.596T>C (GMPPA) | ||
| ENST00000622191.2:c.592T>C (GMPPA) | ENSP00000478700.2:p.Phe198Leu | |
| ENST00000682058.1:c.592T>C (GMPPA) | ENSP00000507378.1:p.Phe198Leu | |
| ENST00000682102.1:c.592T>C (GMPPA) | ENSP00000508279.1:p.Phe198Leu | |
| ENST00000682340.1:n.957T>C (GMPPA) | ||
| ENST00000682435.1:n.521T>C (GMPPA) | ||
| ENST00000682443.1:n.1223T>C (GMPPA) | ||
| ENST00000682481.1:c.*222T>C (GMPPA) | ENSP00000507331.1:n.*222T>C | |
| ENST00000682488.1:c.70-2539T>C (GMPPA) | ENSP00000507140.1:n.70-2539T>C | |
| ENST00000682576.1:c.592T>C (GMPPA) | ENSP00000508370.1:p.Phe198Leu | |
| ENST00000683106.1:n.957T>C (GMPPA) | ||
| ENST00000683131.1:c.*222T>C (GMPPA) | ENSP00000507530.1:n.*222T>C | |
| ENST00000683241.1:n.957T>C (GMPPA) | ||
| ENST00000683382.1:n.681T>C (GMPPA) | ||
| ENST00000683386.1:c.*222T>C (GMPPA) | ENSP00000507844.1:n.*222T>C | |
| ENST00000683402.1:c.592T>C (GMPPA) | ENSP00000507137.1:p.Phe198Leu | |
| ENST00000683591.1:c.592T>C (GMPPA) | ENSP00000508406.1:p.Phe198Leu | |
| ENST00000683598.1:c.592T>C (GMPPA) | ENSP00000508168.1:p.Phe198Leu | |
| ENST00000683617.1:n.679T>C (GMPPA) | ||
| ENST00000683626.1:c.*222T>C (GMPPA) | ENSP00000507216.1:n.*222T>C | |
| ENST00000683691.1:c.*483T>C (GMPPA) | ENSP00000508392.1:n.*483T>C | |
| ENST00000683746.1:n.528T>C (GMPPA) | ||
| ENST00000683752.1:c.241T>C (GMPPA) | ENSP00000507197.1:p.Phe81Leu | |
| ENST00000683864.1:c.*358T>C (GMPPA) | ENSP00000507147.1:n.*358T>C | |
| ENST00000683946.1:c.592T>C (GMPPA) | ENSP00000506941.1:p.Phe198Leu | |
| ENST00000684227.1:c.592T>C (GMPPA) | ENSP00000507190.1:p.Phe198Leu | |
| ENST00000684242.1:n.616T>C (GMPPA) | ||
| ENST00000684274.1:n.957T>C (GMPPA) | ||
| ENST00000684334.1:n.663T>C (GMPPA) | ||
| ENST00000684412.1:n.938T>C (GMPPA) | ||
| ENST00000684562.1:n.957T>C (GMPPA) | ||
| ENST00000684706.1:n.656T>C (GMPPA) | ||
| ENST00000684729.1:c.592T>C (GMPPA) | ENSP00000507441.1:p.Phe198Leu | |
| ENST00000313597.10:c.592T>C (GMPPA) MANE Select | ENSP00000315925.6:p.Phe198Leu | |
| ENST00000313597.9:c.592T>C (GMPPA) | ENSP00000315925.5:p.Phe198Leu | |
| ENST00000341142.7:c.592T>C (GMPPA) | ENSP00000340760.3:p.Phe198Leu | |
| ENST00000358215.8:c.592T>C (GMPPA) | ENSP00000350949.3:p.Phe198Leu | |
| ENST00000373908.5:c.592T>C (GMPPA) | ENSP00000363016.1:p.Phe198Leu | |
| ENST00000373917.7:c.592T>C (GMPPA) | ENSP00000363027.3:p.Phe198Leu | |
| ENST00000435316.5:c.487T>C (GMPPA) | ENSP00000411060.1:p.Phe163Leu | |
| ENST00000443704.5:c.592T>C (GMPPA) | ENSP00000396750.1:p.Phe198Leu | |
| ENST00000481170.1:n.2321T>C (GMPPA) | ||
| ENST00000622191.1:c.592T>C (GMPPA) | ENSP00000478700.1:p.Phe198Leu | |
| ENST00000635609.1:n.490-610T>C (GMPPA) | ||
| NM_013335.3:c.592T>C (GMPPA) | NP_037467.2:p.Phe198Leu | |
| NM_205847.2:c.592T>C (GMPPA) | NP_995319.1:p.Phe198Leu | |
| XM_005246483.2:c.592T>C (GMPPA) | XP_005246540.1:p.Phe198Leu | |
| XM_005246485.2:c.592T>C (GMPPA) | XP_005246542.1:p.Phe198Leu | |
| XM_005246486.2:c.592T>C (GMPPA) | XP_005246543.1:p.Phe198Leu | |
| XM_011511032.1:c.592T>C (GMPPA) | XP_011509334.1:p.Phe198Leu | |
| XM_011511033.1:c.217T>C (GMPPA) | XP_011509335.1:p.Phe73Leu | |
| XM_011511034.1:c.592T>C (GMPPA) | XP_011509336.1:p.Phe198Leu | |
| XM_011511035.1:c.592T>C (GMPPA) | XP_011509337.1:p.Phe198Leu | |
| XR_241307.2:n.686T>C (GMPPA) | ||
| XR_923921.1:n.352+12511A>G (ASIC4-AS1) | ||
| XM_005246486.3:c.592T>C (GMPPA) | XP_005246543.1:p.Phe198Leu | |
| XM_024452823.1:c.592T>C (GMPPA) | XP_024308591.1:p.Phe198Leu | |
| XR_923921.2:n.391+12511A>G (ASIC4-AS1) | ||
| NM_001374294.1:c.592T>C (GMPPA) | NP_001361223.1:p.Phe198Leu | |
| NM_001374295.1:c.592T>C (GMPPA) | NP_001361224.1:p.Phe198Leu | |
| NM_013335.4:c.592T>C (GMPPA) MANE Select | NP_037467.2:p.Phe198Leu | |
| NM_205847.3:c.592T>C (GMPPA) | NP_995319.1:p.Phe198Leu |