Linked Data
ClinVar Variation Id:
368798
dbSNP Id:
rs115750484
gnomAD v2:
1-11086758-G-A
gnomAD v3:
1-11026701-G-A
gnomAD v4:
1-11026701-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11026701G>A , CM000663.2:g.11026701G>A | GRCh38 |
| NC_000001.10:g.11086758G>A , CM000663.1:g.11086758G>A | GRCh37 |
| NC_000001.9:g.11009345G>A | NCBI36 |
| NG_007289.1:g.25528C>T | |
| NG_008734.1:g.19080G>A , LRG_659:g.19080G>A | |
| NG_007289.2:g.25528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700088.1:c.1396+49C>T (MASP2) | ENSP00000514787.1:n.1396+49C>T | |
| ENST00000700089.1:c.2242C>T (MASP2) | ENSP00000514788.1:n.2242C>T | |
| ENST00000700090.1:c.2124C>T (MASP2) | ENSP00000514789.1:n.2124C>T | |
| ENST00000700091.1:c.2047C>T (MASP2) | ENSP00000514790.1:n.2047C>T | |
| ENST00000700092.1:c.2224C>T (MASP2) | ENSP00000514791.1:n.2224C>T | |
| ENST00000700093.1:c.2221C>T (MASP2) | ENSP00000514792.1:n.2221C>T | |
| ENST00000700094.1:c.2253C>T (MASP2) | ENSP00000514793.1:n.2253C>T | |
| ENST00000700095.1:c.1445C>T (MASP2) | ENSP00000514794.1:p.Pro482Leu | |
| ENST00000700096.1:c.1248C>T (MASP2) | ENSP00000514795.1:n.1248C>T | |
| ENST00000400897.8:c.*184C>T (MASP2) MANE Select | ENSP00000383690.3:n.*184C>T | |
| ENST00000400897.7:c.*184C>T (MASP2) | ENSP00000383690.3:n.*184C>T | |
| ENST00000611136.4:c.448+1493G>A | ||
| ENST00000612542.1:c.206+1493G>A | ||
| ENST00000614757.4:c.*452+1493G>A | ENSP00000481867.1:n.*452+1493G>A | |
| ENST00000620028.1:n.416+1493G>A | ||
| ENST00000622108.1:c.231+1493G>A | ENSP00000480398.1:n.231+1493G>A | |
| NM_006610.3:c.*184C>T (MASP2) | NP_006601.2:n.*184C>T | |
| XM_017000863.2:c.*3011+1036G>A (TARDBP) | XP_016856352.1:n.*3011+1036G>A | |
| XM_017000864.2:c.*1895+1036G>A (TARDBP) | XP_016856353.1:n.*1895+1036G>A | |
| XM_017000865.2:c.*1780+1493G>A (TARDBP) | XP_016856354.1:n.*1780+1493G>A | |
| NM_006610.4:c.*184C>T (MASP2) MANE Select | NP_006601.2:n.*184C>T |