Linked Data
ClinVar Variation Id:
198889
dbSNP Id:
rs6550987
ExAC:
3:25775356 A / C
gnomAD v2:
3-25775356-A-C
gnomAD v3:
3-25733865-A-C
gnomAD v4:
3-25733865-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25733865A>C , CM000665.2:g.25733865A>C | GRCh38 |
| NC_000003.11:g.25775356A>C , CM000665.1:g.25775356A>C | GRCh37 |
| NC_000003.10:g.25750360A>C | NCBI36 |
| NG_034108.1:g.61175T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280700.10:c.1260+7T>G MANE Select | ENSP00000280700.5:n.1260+7T>G | |
| ENST00000463611.2:c.*1351+7T>G | ENSP00000501918.1:n.*1351+7T>G | |
| ENST00000674841.1:n.1383+7T>G | ||
| ENST00000675178.1:n.278+7T>G | ||
| ENST00000675217.1:c.*633+7T>G | ENSP00000502195.1:n.*633+7T>G | |
| ENST00000675234.1:c.*757+7T>G | ENSP00000502740.1:n.*757+7T>G | |
| ENST00000675680.1:c.739+7T>G | ||
| ENST00000676225.1:c.1230+7T>G | ENSP00000501622.1:n.1230+7T>G | |
| ENST00000280699.13:c.1011+7T>G | ||
| ENST00000280700.9:c.1260+7T>G | ENSP00000280700.5:n.1260+7T>G | |
| ENST00000308710.9:c.1197+7T>G | ENSP00000307980.5:n.1197+7T>G | |
| ENST00000396649.7:c.1260+7T>G | ENSP00000379886.3:n.1260+7T>G | |
| ENST00000417874.6:c.1134+7T>G | ENSP00000389888.2:n.1134+7T>G | |
| ENST00000428257.5:c.1206+7T>G | ENSP00000387430.1:n.1206+7T>G | |
| ENST00000467224.5:n.113+7T>G | ||
| ENST00000493324.5:n.2163+7T>G | ||
| ENST00000496726.5:n.2475+7T>G | ||
| NM_001145293.1:c.1206+7T>G | NP_001138765.1:n.1206+7T>G | |
| NM_001145294.1:c.1134+7T>G | NP_001138766.1:n.1134+7T>G | |
| NM_001145295.1:c.1260+7T>G | NP_001138767.1:n.1260+7T>G | |
| NM_018297.3:c.1260+7T>G | NP_060767.2:n.1260+7T>G | |
| XM_005265316.1:c.1260+7T>G | XP_005265373.1:n.1260+7T>G | |
| XM_005265317.1:c.1260+7T>G | XP_005265374.1:n.1260+7T>G | |
| XM_011533944.1:c.1029+7T>G | XP_011532246.1:n.1029+7T>G | |
| XR_940470.1:n.1313+7T>G | ||
| XR_940471.1:n.1405+7T>G | ||
| XM_017006839.2:c.1260+7T>G | XP_016862328.1:n.1260+7T>G | |
| XR_001740200.2:n.1405+7T>G | ||
| XR_002959548.1:n.1167+7T>G | ||
| XR_940471.2:n.1405+7T>G | ||
| NM_018297.4:c.1260+7T>G MANE Select | NP_060767.2:n.1260+7T>G | |
| NM_001145293.2:c.1206+7T>G | NP_001138765.1:n.1206+7T>G | |
| NM_001145294.2:c.1134+7T>G | NP_001138766.1:n.1134+7T>G | |
| NM_001145295.2:c.1260+7T>G | NP_001138767.1:n.1260+7T>G |