Linked Data
dbSNP Id:
rs477084
gnomAD v2:
9-73690668-A-C
gnomAD v3:
9-71075752-A-C
gnomAD v4:
9-71075752-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.71075752A>C , CM000671.2:g.71075752A>C | GRCh38 |
| NC_000009.11:g.73690668A>C , CM000671.1:g.73690668A>C | GRCh37 |
| NC_000009.10:g.72880488A>C | NCBI36 |
| NG_047197.1:g.376173T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704567.1:c.-437+21141T>G | ENSP00000515944.1:n.-437+21141T>G | |
| ENST00000704568.1:c.177+45426T>G | ENSP00000515945.1:n.177+45426T>G | |
| ENST00000704571.1:n.12-7616T>G | ||
| ENST00000377110.9:c.177+45426T>G | ENSP00000366314.4:n.177+45426T>G | |
| ENST00000377111.8:c.177+45426T>G | ENSP00000366315.4:n.177+45426T>G | |
| ENST00000677713.2:c.177+45426T>G MANE Select | ENSP00000503830.2:n.177+45426T>G | |
| ENST00000354500.6:n.253-211241T>G | ||
| ENST00000357533.6:c.184-211241T>G | ENSP00000350140.2:n.184-211241T>G | |
| ENST00000377110.7:c.177+45426T>G | ENSP00000366314.2:n.177+45426T>G | |
| ENST00000377111.6:c.177+45426T>G | ENSP00000366315.2:n.177+45426T>G | |
| NM_001007471.2:c.177+45426T>G | NP_001007472.2:n.177+45426T>G | |
| XM_011519035.1:c.184-211241T>G | XP_011517337.1:n.184-211241T>G | |
| XM_011519036.1:c.177+45426T>G | XP_011517338.1:n.177+45426T>G | |
| XM_011519037.1:c.177+45426T>G | XP_011517339.1:n.177+45426T>G | |
| XM_011519038.1:c.177+45426T>G | XP_011517340.1:n.177+45426T>G | |
| XM_011519039.1:c.177+45426T>G | XP_011517341.1:n.177+45426T>G | |
| XM_011519040.1:c.184-211241T>G | XP_011517342.1:n.184-211241T>G | |
| XM_011519041.1:c.177+45426T>G | XP_011517343.1:n.177+45426T>G | |
| XM_011519042.1:c.184-211241T>G | XP_011517344.1:n.184-211241T>G | |
| XM_011519043.1:c.184-211241T>G | XP_011517345.1:n.184-211241T>G | |
| XM_011519044.1:c.177+45426T>G | XP_011517346.1:n.177+45426T>G | |
| XM_011519045.1:c.184-211241T>G | XP_011517347.1:n.184-211241T>G | |
| XM_011519046.1:c.177+45426T>G | XP_011517348.1:n.177+45426T>G | |
| XM_011519047.1:c.177+45426T>G | XP_011517349.1:n.177+45426T>G | |
| NM_001007471.3:c.177+45426T>G | NP_001007472.2:n.177+45426T>G | |
| NM_001366141.1:c.184-211241T>G | NP_001353070.1:n.184-211241T>G | |
| NM_001366142.1:c.184-211241T>G | NP_001353071.1:n.184-211241T>G | |
| NM_001366143.1:c.184-211241T>G | NP_001353072.1:n.184-211241T>G | |
| NM_001366144.1:c.184-211241T>G | NP_001353073.1:n.184-211241T>G | |
| NM_001366145.1:c.177+45426T>G | NP_001353074.1:n.177+45426T>G | |
| NM_001366146.1:c.177+45426T>G | NP_001353075.1:n.177+45426T>G | |
| NM_001366147.1:c.177+45426T>G | NP_001353076.1:n.177+45426T>G | |
| NM_001366148.1:c.177+45426T>G | NP_001353077.1:n.177+45426T>G | |
| NM_001366149.1:c.177+45426T>G | NP_001353078.1:n.177+45426T>G | |
| NM_001366150.1:c.177+45426T>G | NP_001353079.1:n.177+45426T>G | |
| NM_001366151.1:c.177+45426T>G | NP_001353080.1:n.177+45426T>G | |
| NM_001366152.1:c.177+45426T>G | NP_001353081.1:n.177+45426T>G | |
| NM_001366153.1:c.177+45426T>G | NP_001353082.1:n.177+45426T>G | |
| XM_011519037.3:c.177+45426T>G | XP_011517339.1:n.177+45426T>G | |
| XM_011519038.3:c.177+45426T>G | XP_011517340.1:n.177+45426T>G | |
| XM_011519039.3:c.177+45426T>G | XP_011517341.1:n.177+45426T>G | |
| XM_011519040.3:c.184-211241T>G | XP_011517342.1:n.184-211241T>G | |
| XM_011519042.3:c.184-211241T>G | XP_011517344.1:n.184-211241T>G | |
| XM_011519045.2:c.184-211241T>G | XP_011517347.1:n.184-211241T>G | |
| XM_011519046.3:c.177+45426T>G | XP_011517348.1:n.177+45426T>G | |
| XM_024447687.1:c.184-211241T>G | XP_024303455.1:n.184-211241T>G | |
| NM_001007471.4:c.177+45426T>G | NP_001007472.2:n.177+45426T>G | |
| NM_001366141.2:c.184-211241T>G | NP_001353070.1:n.184-211241T>G | |
| NM_001366142.2:c.184-211241T>G | NP_001353071.1:n.184-211241T>G | |
| NM_001366143.2:c.184-211241T>G | NP_001353072.1:n.184-211241T>G | |
| NM_001366145.2:c.177+45426T>G MANE Select | NP_001353074.1:n.177+45426T>G | |
| NM_001366146.2:c.177+45426T>G | NP_001353075.1:n.177+45426T>G | |
| NM_001366147.2:c.177+45426T>G | NP_001353076.1:n.177+45426T>G | |
| NM_001366148.2:c.177+45426T>G | NP_001353077.1:n.177+45426T>G | |
| NM_001366149.2:c.177+45426T>G | NP_001353078.1:n.177+45426T>G | |
| NM_001366150.2:c.177+45426T>G | NP_001353079.1:n.177+45426T>G | |
| NM_001366151.2:c.177+45426T>G | NP_001353080.1:n.177+45426T>G | |
| NM_001366152.2:c.177+45426T>G | NP_001353081.1:n.177+45426T>G | |
| NM_001366144.2:c.184-211241T>G | NP_001353073.1:n.184-211241T>G | |
| NM_001366153.2:c.177+45426T>G | NP_001353082.1:n.177+45426T>G |