Linked Data
ClinVar Variation Id:
2561
dbSNP Id:
rs121908293
ExAC:
11:77838439 T / G
gnomAD v2:
11-77838439-T-G
gnomAD v3:
11-78127393-T-G
gnomAD v4:
11-78127393-T-G
PubMed:
PMID:15235028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78127393T>G , CM000673.2:g.78127393T>G | GRCh38 |
| NC_000011.9:g.77838439T>G , CM000673.1:g.77838439T>G | GRCh37 |
| NC_000011.8:g.77516087T>G | NCBI36 |
| NG_008926.1:g.17261A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299626.10:c.139A>C MANE Select | ENSP00000299626.5:p.Thr47Pro | |
| ENST00000524925.2:n.255A>C | ||
| ENST00000525755.6:c.139A>C | ENSP00000435467.2:p.Thr47Pro | |
| ENST00000525761.3:c.-126A>C | ENSP00000431357.3:n.-126A>C | |
| ENST00000525783.6:c.-90-3179A>C | ENSP00000434066.2:n.-90-3179A>C | |
| ENST00000525870.6:c.139A>C | ENSP00000435417.2:p.Thr47Pro | |
| ENST00000526737.6:c.139A>C | ENSP00000436366.2:p.Thr47Pro | |
| ENST00000526849.6:c.139A>C | ENSP00000434388.2:p.Thr47Pro | |
| ENST00000527099.2:c.-126A>C | ENSP00000436064.2:n.-126A>C | |
| ENST00000529139.6:c.139A>C | ENSP00000432953.2:p.Thr47Pro | |
| ENST00000530454.6:c.139A>C | ENSP00000434660.2:p.Thr47Pro | |
| ENST00000530608.6:c.96-3301A>C | ENSP00000432381.2:n.96-3301A>C | |
| ENST00000530910.6:c.-126A>C | ENSP00000437033.2:n.-126A>C | |
| ENST00000532306.6:c.139A>C | ENSP00000435626.2:p.Thr47Pro | |
| ENST00000532440.6:c.139A>C | ENSP00000433429.2:p.Thr47Pro | |
| ENST00000615266.5:c.139A>C | ENSP00000480742.2:p.Thr47Pro | |
| ENST00000679444.1:c.-126A>C | ENSP00000506099.1:n.-126A>C | |
| ENST00000679497.1:c.-126A>C | ENSP00000505407.1:n.-126A>C | |
| ENST00000679539.1:c.139A>C | ENSP00000504910.1:p.Thr47Pro | |
| ENST00000679559.1:c.139A>C | ENSP00000505433.1:p.Thr47Pro | |
| ENST00000679581.1:n.875A>C | ||
| ENST00000679648.1:c.-90-3179A>C | ENSP00000505726.1:n.-90-3179A>C | |
| ENST00000679685.1:c.-126A>C | ENSP00000505698.1:n.-126A>C | |
| ENST00000679697.1:c.139A>C | ENSP00000505696.1:p.Thr47Pro | |
| ENST00000679874.1:c.-126A>C | ENSP00000506314.1:n.-126A>C | |
| ENST00000679986.1:c.-126A>C | ENSP00000505614.1:n.-126A>C | |
| ENST00000680063.1:c.-126A>C | ENSP00000504928.1:n.-126A>C | |
| ENST00000680101.1:c.-90-3179A>C | ENSP00000504917.1:n.-90-3179A>C | |
| ENST00000680142.1:n.904+11317A>C | ||
| ENST00000680223.1:c.139A>C | ENSP00000505023.1:p.Thr47Pro | |
| ENST00000680256.1:c.142A>C | ENSP00000505074.1:p.Thr48Pro | |
| ENST00000680329.1:c.-90-3179A>C | ENSP00000506215.1:n.-90-3179A>C | |
| ENST00000680398.1:c.139A>C | ENSP00000506189.1:p.Thr47Pro | |
| ENST00000680399.1:c.139A>C | ENSP00000505984.1:p.Thr47Pro | |
| ENST00000680459.1:c.139A>C | ENSP00000506617.1:p.Thr47Pro | |
| ENST00000680467.1:c.139A>C | ENSP00000505609.1:p.Thr47Pro | |
| ENST00000680499.1:c.-126A>C | ENSP00000506092.1:n.-126A>C | |
| ENST00000680580.1:c.-126A>C | ENSP00000506170.1:n.-126A>C | |
| ENST00000680643.1:c.139A>C | ENSP00000505207.1:p.Thr47Pro | |
| ENST00000680650.1:n.49A>C | ||
| ENST00000680761.1:c.-126A>C | ENSP00000506421.1:n.-126A>C | |
| ENST00000680797.1:c.-126A>C | ENSP00000506717.1:n.-126A>C | |
| ENST00000680829.1:c.-126A>C | ENSP00000506408.1:n.-126A>C | |
| ENST00000680866.1:c.139A>C | ENSP00000505649.1:p.Thr47Pro | |
| ENST00000680996.1:c.-126A>C | ENSP00000505468.1:n.-126A>C | |
| ENST00000681221.1:c.-90-3179A>C | ENSP00000505136.1:n.-90-3179A>C | |
| ENST00000681225.1:c.-126A>C | ENSP00000505016.1:n.-126A>C | |
| ENST00000681351.1:c.-126A>C | ENSP00000506652.1:n.-126A>C | |
| ENST00000681384.1:c.-126A>C | ENSP00000506249.1:n.-126A>C | |
| ENST00000681417.1:c.-90-3179A>C | ENSP00000505965.1:n.-90-3179A>C | |
| ENST00000681489.1:c.-126A>C | ENSP00000505200.1:n.-126A>C | |
| ENST00000681575.1:c.-126A>C | ENSP00000505743.1:n.-126A>C | |
| ENST00000681699.1:c.-126A>C | ENSP00000504969.1:n.-126A>C | |
| ENST00000681723.1:c.-126A>C | ENSP00000506059.1:n.-126A>C | |
| ENST00000681765.1:c.-126A>C | ENSP00000505811.1:n.-126A>C | |
| ENST00000681957.1:c.139A>C | ENSP00000506056.1:p.Thr47Pro | |
| ENST00000299626.9:c.139A>C | ENSP00000299626.5:p.Thr47Pro | |
| ENST00000376156.7:c.139A>C | ENSP00000365326.3:p.Thr47Pro | |
| ENST00000525755.5:c.22-3179A>C | ENSP00000435467.1:n.22-3179A>C | |
| ENST00000525761.2:c.61A>C | ENSP00000431357.2:p.Thr21Pro | |
| ENST00000525870.5:c.-126A>C | ENSP00000435417.1:n.-126A>C | |
| ENST00000526737.5:c.139A>C | ENSP00000436366.1:p.Thr47Pro | |
| ENST00000527099.1:c.-126A>C | ENSP00000436064.1:n.-126A>C | |
| ENST00000530454.5:c.142A>C | ENSP00000434660.1:p.Thr48Pro | |
| ENST00000530910.5:c.112A>C | ENSP00000437033.1:p.Thr38Pro | |
| ENST00000532050.5:c.139A>C | ENSP00000437199.1:p.Thr47Pro | |
| ENST00000532552.2:n.121+12101A>C | ||
| ENST00000615266.4:c.139A>C | ENSP00000480742.1:p.Thr47Pro | |
| NM_001007027.2:c.139A>C | NP_001007028.1:p.Thr47Pro | |
| NM_024079.4:c.139A>C | NP_076984.2:p.Thr47Pro | |
| XM_005274247.2:c.112A>C | XP_005274304.1:p.Thr38Pro | |
| XM_011545251.1:c.139A>C | XP_011543553.1:p.Thr47Pro | |
| XM_011545252.1:c.-126A>C | XP_011543554.1:n.-126A>C | |
| XR_428923.2:n.211A>C | ||
| XR_950044.1:n.211A>C | ||
| XR_950045.1:n.211A>C | ||
| XM_005274247.3:c.112A>C | XP_005274304.1:p.Thr38Pro | |
| XM_011545252.2:c.-126A>C | XP_011543554.1:n.-126A>C | |
| XM_017018274.1:c.112A>C | XP_016873763.1:p.Thr38Pro | |
| XR_001747956.1:n.961A>C | ||
| XR_428923.4:n.194A>C | ||
| XR_950044.3:n.194A>C | ||
| XR_950045.3:n.194A>C | ||
| NM_024079.5:c.139A>C MANE Select | NP_076984.2:p.Thr47Pro | |
| NM_001007027.3:c.139A>C | NP_001007028.1:p.Thr47Pro |