Linked Data
ClinVar Variation Id:
5235
ClinVar RCV Id:
RCV000005546
dbSNP Id:
rs80356731
PubMed:
PMID:18438952
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11022437A>G , CM000663.2:g.11022437A>G | GRCh38 |
| NC_000001.10:g.11082494A>G , CM000663.1:g.11082494A>G | GRCh37 |
| NC_000001.9:g.11005081A>G | NCBI36 |
| NG_008734.1:g.14816A>G , LRG_659:g.14816A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700088.1:c.1397-244T>C (MASP2) | ENSP00000514787.1:n.1397-244T>C | |
| ENST00000240185.8:c.1028A>G (TARDBP) MANE Select | ENSP00000240185.4:p.Gln343Arg | |
| ENST00000639083.1:c.1028A>G (TARDBP) | ENSP00000491203.1:p.Gln343Arg | |
| ENST00000639599.1:c.832+196A>G (TARDBP) | ENSP00000492196.1:n.832+196A>G | |
| ENST00000649624.1:c.768+260A>G (TARDBP) | ENSP00000497327.1:n.768+260A>G | |
| ENST00000240185.7:c.1028A>G (TARDBP) | ENSP00000240185.3:p.Gln343Arg | |
| ENST00000315091.7:c.832+196A>G (TARDBP) | ENSP00000313129.3:n.832+196A>G | |
| ENST00000439080.6:c.*609A>G (TARDBP) | ENSP00000404666.3:n.*609A>G | |
| ENST00000473869.5:c.841+187A>G (TARDBP) | ENSP00000432132.1:n.841+187A>G | |
| ENST00000477447.6:c.140+187A>G (TARDBP) | ||
| ENST00000610369.4:c.319+187A>G (TARDBP) | ENSP00000482559.1:n.319+187A>G | |
| ENST00000611136.4:c.212+196A>G | ||
| ENST00000611963.4:c.472+196A>G (TARDBP) | ENSP00000481330.1:n.472+196A>G | |
| ENST00000612542.1:c.107+187A>G | ||
| ENST00000614494.1:c.221+260A>G (TARDBP) | ||
| ENST00000614757.4:c.841+187A>G | ENSP00000481867.1:n.841+187A>G | |
| ENST00000616545.4:c.841+187A>G (TARDBP) | ENSP00000484722.1:n.841+187A>G | |
| ENST00000617172.4:c.582+187A>G (TARDBP) | ||
| ENST00000619555.4:c.392+187A>G (TARDBP) | ||
| ENST00000620505.1:c.130A>G (TARDBP) | ||
| ENST00000620632.4:c.392+187A>G (TARDBP) | ||
| ENST00000621790.4:c.859+169A>G (TARDBP) | ENSP00000482191.1:n.859+169A>G | |
| ENST00000622057.4:c.579+196A>G (TARDBP) | ||
| ENST00000629725.2:c.841+187A>G (TARDBP) | ENSP00000486989.1:n.841+187A>G | |
| NM_007375.3:c.1028A>G , LRG_659t1:c.1028A>G (TARDBP) | NP_031401.1:p.Gln343Arg | |
| XR_946596.1:n.1150A>G (TARDBP) | ||
| XR_946597.1:n.1150A>G (TARDBP) | ||
| XM_017000863.2:c.1028A>G (TARDBP) | XP_016856352.1:p.Gln343Arg | |
| XM_017000864.2:c.1028A>G (TARDBP) | XP_016856353.1:p.Gln343Arg | |
| XM_017000865.2:c.1028A>G (TARDBP) | XP_016856354.1:p.Gln343Arg | |
| XM_017000866.2:c.1028A>G (TARDBP) | XP_016856355.1:p.Gln343Arg | |
| XM_017000867.2:c.1028A>G (TARDBP) | XP_016856356.1:p.Gln343Arg | |
| XM_017000868.2:c.1028A>G (TARDBP) | XP_016856357.1:p.Gln343Arg | |
| NM_007375.4:c.1028A>G (TARDBP) MANE Select | NP_031401.1:p.Gln343Arg |