Linked Data
ClinVar Variation Id:
3217014
ClinVar RCV Id:
RCV004514877
dbSNP Id:
rs201978569
gnomAD v4:
3-12379844-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12379844A>G , CM000665.2:g.12379844A>G | GRCh38 |
| NC_000003.11:g.12421343A>G , CM000665.1:g.12421343A>G | GRCh37 |
| NC_000003.10:g.12396343A>G | NCBI36 |
| NG_011749.1:g.96995A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681966.1:c.133A>G | ENSP00000507572.1:p.Thr45Ala | |
| ENST00000681982.1:c.133A>G | ENSP00000508065.1:p.Thr45Ala | |
| ENST00000682446.1:c.133A>G | ENSP00000506813.1:p.Thr45Ala | |
| ENST00000682494.1:n.3033A>G | ||
| ENST00000683586.1:c.133A>G | ENSP00000507893.1:p.Thr45Ala | |
| ENST00000683699.1:c.223A>G | ENSP00000507823.1:p.Thr75Ala | |
| ENST00000683749.1:c.133A>G | ENSP00000507050.1:p.Thr45Ala | |
| ENST00000684065.1:c.133A>G | ENSP00000508347.1:p.Thr45Ala | |
| ENST00000309576.11:c.133A>G | ENSP00000312472.7:p.Thr45Ala | |
| ENST00000396999.3:c.133A>G | ENSP00000380195.3:p.Thr45Ala | |
| ENST00000397000.6:c.133A>G | ENSP00000380196.2:p.Thr45Ala | |
| ENST00000397010.7:c.133A>G | ENSP00000380205.3:p.Thr45Ala | |
| ENST00000397015.7:c.133A>G | ENSP00000380210.3:p.Thr45Ala | |
| ENST00000397026.7:c.133A>G | ENSP00000380221.3:p.Thr45Ala | |
| ENST00000397029.8:c.133A>G | ENSP00000380224.4:p.Thr45Ala | |
| ENST00000438682.6:c.133A>G | ENSP00000392285.2:p.Thr45Ala | |
| ENST00000643197.2:c.133A>G | ENSP00000495840.2:p.Thr45Ala | |
| ENST00000643888.2:c.133A>G | ENSP00000494934.2:p.Thr45Ala | |
| ENST00000644622.2:c.133A>G | ENSP00000494873.2:p.Thr45Ala | |
| ENST00000651735.1:c.133A>G MANE Select | ENSP00000498313.1:p.Thr45Ala | |
| ENST00000652098.1:c.-17-26038A>G | ENSP00000498300.1:n.-17-26038A>G | |
| ENST00000652431.1:c.-92-1478A>G | ENSP00000498717.1:n.-92-1478A>G | |
| ENST00000652522.1:c.133A>G | ENSP00000498500.1:p.Thr45Ala | |
| ENST00000287820.10:c.223A>G | ENSP00000287820.6:p.Thr75Ala | |
| ENST00000309576.10:c.139A>G | ENSP00000312472.6:p.Thr47Ala | |
| ENST00000396999.2:c.139A>G | ENSP00000380195.2:p.Thr47Ala | |
| ENST00000397000.5:c.139A>G | ENSP00000380196.1:p.Thr47Ala | |
| ENST00000397010.6:c.139A>G | ENSP00000380205.2:p.Thr47Ala | |
| ENST00000397012.6:c.139A>G | ENSP00000380207.2:p.Thr47Ala | |
| ENST00000397015.6:c.139A>G | ENSP00000380210.2:p.Thr47Ala | |
| ENST00000397023.5:c.*361A>G | ENSP00000380218.1:n.*361A>G | |
| ENST00000397026.6:c.157A>G | ENSP00000380221.2:p.Thr53Ala | |
| ENST00000397029.7:c.139A>G | ENSP00000380224.3:p.Thr47Ala | |
| ENST00000438682.5:c.139A>G | ENSP00000392285.1:p.Thr47Ala | |
| ENST00000477039.5:n.344A>G | ||
| ENST00000497594.5:n.239A>G | ||
| NM_005037.5:c.139A>G | NP_005028.4:p.Thr47Ala | |
| NM_015869.4:c.223A>G | NP_056953.2:p.Thr75Ala | |
| NM_138711.3:c.139A>G | NP_619725.2:p.Thr47Ala | |
| NM_138712.3:c.139A>G | NP_619726.2:p.Thr47Ala | |
| XM_011533840.1:c.139A>G | XP_011532142.1:p.Thr47Ala | |
| XM_011533841.1:c.139A>G | XP_011532143.1:p.Thr47Ala | |
| XM_011533842.1:c.223A>G | XP_011532144.1:p.Thr75Ala | |
| XM_011533843.1:c.223A>G | XP_011532145.1:p.Thr75Ala | |
| XM_011533844.1:c.139A>G | XP_011532146.1:p.Thr47Ala | |
| NM_001330615.1:c.139A>G | NP_001317544.1:p.Thr47Ala | |
| NM_001354666.1:c.139A>G | NP_001341595.1:p.Thr47Ala | |
| NM_001354667.1:c.139A>G | NP_001341596.1:p.Thr47Ala | |
| NM_001354668.1:c.223A>G | NP_001341597.1:p.Thr75Ala | |
| NM_001354669.1:c.-295A>G | NP_001341598.1:n.-295A>G | |
| NM_001354670.1:c.139A>G | NP_001341599.1:p.Thr47Ala | |
| XM_011533842.2:c.223A>G | XP_011532144.1:p.Thr75Ala | |
| XM_011533843.2:c.223A>G | XP_011532145.1:p.Thr75Ala | |
| XM_024453604.1:c.139A>G | XP_024309372.1:p.Thr47Ala | |
| XM_024453605.1:c.139A>G | XP_024309373.1:p.Thr47Ala | |
| XM_024453606.1:c.139A>G | XP_024309374.1:p.Thr47Ala | |
| NM_001330615.2:c.139A>G | NP_001317544.1:p.Thr47Ala | |
| NM_001354666.2:c.139A>G | NP_001341595.1:p.Thr47Ala | |
| NM_001354667.2:c.139A>G | NP_001341596.1:p.Thr47Ala | |
| NM_001354668.2:c.223A>G | NP_001341597.1:p.Thr75Ala | |
| NM_001354669.2:c.-295A>G | NP_001341598.1:n.-295A>G | |
| NM_001354670.2:c.139A>G | NP_001341599.1:p.Thr47Ala | |
| NM_001374261.1:c.139A>G | NP_001361190.1:p.Thr47Ala | |
| NM_001374262.1:c.139A>G | NP_001361191.1:p.Thr47Ala | |
| NM_001374263.1:c.139A>G | NP_001361192.1:p.Thr47Ala | |
| NM_001374264.1:c.139A>G | NP_001361193.1:p.Thr47Ala | |
| NM_001374265.1:c.223A>G | NP_001361194.1:p.Thr75Ala | |
| NM_001374266.1:c.139A>G | NP_001361195.1:p.Thr47Ala | |
| NM_005037.6:c.139A>G | NP_005028.4:p.Thr47Ala | |
| NM_015869.5:c.223A>G | NP_056953.2:p.Thr75Ala | |
| NM_138711.4:c.139A>G | NP_619725.2:p.Thr47Ala | |
| NM_138712.4:c.139A>G | NP_619726.2:p.Thr47Ala | |
| NM_001330615.4:c.133A>G | NP_001317544.2:p.Thr45Ala | |
| NM_001354666.3:c.133A>G | NP_001341595.2:p.Thr45Ala | |
| NM_001354667.3:c.133A>G | NP_001341596.2:p.Thr45Ala | |
| NM_001374261.3:c.133A>G | NP_001361190.2:p.Thr45Ala | |
| NM_001374262.3:c.133A>G | NP_001361191.2:p.Thr45Ala | |
| NM_001374263.2:c.133A>G | NP_001361192.2:p.Thr45Ala | |
| NM_001374264.2:c.133A>G | NP_001361193.2:p.Thr45Ala | |
| NM_005037.7:c.133A>G | NP_005028.5:p.Thr45Ala | |
| NM_138711.6:c.133A>G MANE Select | NP_619725.3:p.Thr45Ala | |
| NM_138712.5:c.133A>G | NP_619726.3:p.Thr45Ala |