Linked Data
dbSNP Id:
rs1471639513
gnomAD v2:
1-11082136-A-G
gnomAD v3:
1-11022079-A-G
gnomAD v4:
1-11022079-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11022079A>G , CM000663.2:g.11022079A>G | GRCh38 |
| NC_000001.10:g.11082136A>G , CM000663.1:g.11082136A>G | GRCh37 |
| NC_000001.9:g.11004723A>G | NCBI36 |
| NG_008734.1:g.14458A>G , LRG_659:g.14458A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700088.1:c.1511T>C (MASP2) | ENSP00000514787.1:n.1511T>C | |
| ENST00000240185.8:c.715-45A>G (TARDBP) MANE Select | ENSP00000240185.4:n.715-45A>G | |
| ENST00000639083.1:c.715-45A>G (TARDBP) | ENSP00000491203.1:n.715-45A>G | |
| ENST00000639599.1:c.715-45A>G (TARDBP) | ENSP00000492196.1:n.715-45A>G | |
| ENST00000649624.1:c.715-45A>G (TARDBP) | ENSP00000497327.1:n.715-45A>G | |
| ENST00000240185.7:c.715-45A>G (TARDBP) | ENSP00000240185.3:n.715-45A>G | |
| ENST00000315091.7:c.715-45A>G (TARDBP) | ENSP00000313129.3:n.715-45A>G | |
| ENST00000439080.6:c.*296-45A>G (TARDBP) | ENSP00000404666.3:n.*296-45A>G | |
| ENST00000472476.5:c.*604-45A>G (TARDBP) | ENSP00000465080.1:n.*604-45A>G | |
| ENST00000473869.5:c.715-45A>G (TARDBP) | ENSP00000432132.1:n.715-45A>G | |
| ENST00000477447.6:c.14-45A>G (TARDBP) | ||
| ENST00000610369.4:c.193-45A>G (TARDBP) | ENSP00000482559.1:n.193-45A>G | |
| ENST00000611136.4:c.95-45A>G | ||
| ENST00000611963.4:c.355-45A>G (TARDBP) | ENSP00000481330.1:n.355-45A>G | |
| ENST00000614494.1:c.168-45A>G (TARDBP) | ||
| ENST00000614757.4:c.715-45A>G | ENSP00000481867.1:n.715-45A>G | |
| ENST00000616545.4:c.715-45A>G (TARDBP) | ENSP00000484722.1:n.715-45A>G | |
| ENST00000617172.4:c.456-45A>G (TARDBP) | ||
| ENST00000619555.4:c.266-45A>G (TARDBP) | ||
| ENST00000620632.4:c.266-45A>G (TARDBP) | ||
| ENST00000621715.4:c.544-45A>G (TARDBP) | ENSP00000480690.1:n.544-45A>G | |
| ENST00000621790.4:c.715-45A>G (TARDBP) | ENSP00000482191.1:n.715-45A>G | |
| ENST00000622057.4:c.462-45A>G (TARDBP) | ||
| ENST00000629725.2:c.715-45A>G (TARDBP) | ENSP00000486989.1:n.715-45A>G | |
| NM_007375.3:c.715-45A>G , LRG_659t1:c.715-45A>G (TARDBP) | NP_031401.1:n.715-45A>G | |
| XR_946596.1:n.837-45A>G (TARDBP) | ||
| XR_946597.1:n.837-45A>G (TARDBP) | ||
| XM_017000863.2:c.715-45A>G (TARDBP) | XP_016856352.1:n.715-45A>G | |
| XM_017000864.2:c.715-45A>G (TARDBP) | XP_016856353.1:n.715-45A>G | |
| XM_017000865.2:c.715-45A>G (TARDBP) | XP_016856354.1:n.715-45A>G | |
| XM_017000866.2:c.715-45A>G (TARDBP) | XP_016856355.1:n.715-45A>G | |
| XM_017000867.2:c.715-45A>G (TARDBP) | XP_016856356.1:n.715-45A>G | |
| XM_017000868.2:c.715-45A>G (TARDBP) | XP_016856357.1:n.715-45A>G | |
| NM_007375.4:c.715-45A>G (TARDBP) MANE Select | NP_031401.1:n.715-45A>G |