Linked Data
ClinVar Variation Id:
310588
ClinVar RCV Id:
RCV000283328
RCV000322071
RCV000270876
RCV000380635
RCV000729391
RCV000323734
RCV001409432
dbSNP Id:
rs745813087
ExAC:
12:88444124 A / C
gnomAD v2:
12-88444124-A-C
gnomAD v3:
12-88050347-A-C
gnomAD v4:
12-88050347-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88050347A>C , CM000674.2:g.88050347A>C | GRCh38 |
| NC_000012.11:g.88444124A>C , CM000674.1:g.88444124A>C | GRCh37 |
| NC_000012.10:g.86968255A>C | NCBI36 |
| NG_008417.1:g.96870T>G | |
| NG_008417.2:g.96870T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.7218+7T>G | ENSP00000308021.8:n.7218+7T>G | |
| ENST00000547691.8:c.4178+7T>G | ||
| ENST00000552810.6:c.7209+7T>G MANE Select | ENSP00000448012.1:n.7209+7T>G | |
| ENST00000671777.2:n.988+7T>G | ||
| ENST00000672414.2:c.*5215+7T>G | ENSP00000500729.1:n.*5215+7T>G | |
| ENST00000672647.1:n.5569+7T>G | ||
| ENST00000673058.2:c.7086+7T>G | ENSP00000500665.2:n.7086+7T>G | |
| ENST00000674712.1:n.736+7T>G | ||
| ENST00000674889.1:n.4162+7T>G | ||
| ENST00000674971.1:c.*166+7T>G | ENSP00000502194.1:n.*166+7T>G | |
| ENST00000675230.1:c.7188+7T>G | ENSP00000502503.1:n.7188+7T>G | |
| ENST00000675408.1:c.7044+7T>G | ENSP00000502298.1:n.7044+7T>G | |
| ENST00000675476.1:c.8070+7T>G | ENSP00000502161.1:n.8070+7T>G | |
| ENST00000675628.1:n.9191+7T>G | ||
| ENST00000675794.1:c.*5380+7T>G | ENSP00000502841.1:n.*5380+7T>G | |
| ENST00000675833.1:c.7977+7T>G | ENSP00000502559.1:n.7977+7T>G | |
| ENST00000675894.1:n.3514+7T>G | ||
| ENST00000676074.1:c.*166+7T>G | ENSP00000502079.1:n.*166+7T>G | |
| ENST00000676181.1:n.7892+7T>G | ||
| ENST00000676190.1:n.3403+7T>G | ||
| ENST00000676363.1:n.12935+7T>G | ||
| ENST00000309041.11:c.7215+7T>G | ENSP00000308021.7:n.7215+7T>G | |
| ENST00000547691.6:c.4389+7T>G | ENSP00000446905.1:n.4389+7T>G | |
| ENST00000552810.5:c.7209+7T>G | ENSP00000448012.1:n.7209+7T>G | |
| NM_025114.3:c.7209+7T>G | NP_079390.3:n.7209+7T>G | |
| XM_011538756.1:c.8079+7T>G | XP_011537058.1:n.8079+7T>G | |
| XM_011538757.1:c.8079+7T>G | XP_011537059.1:n.8079+7T>G | |
| XM_011538758.1:c.8076+7T>G | XP_011537060.1:n.8076+7T>G | |
| XM_011538759.1:c.8070+7T>G | XP_011537061.1:n.8070+7T>G | |
| XM_011538760.1:c.7956+7T>G | XP_011537062.1:n.7956+7T>G | |
| XM_011538761.1:c.7914+7T>G | XP_011537063.1:n.7914+7T>G | |
| XM_011538762.1:c.7311+7T>G | XP_011537064.1:n.7311+7T>G | |
| XM_011538763.1:c.7218+7T>G | XP_011537065.1:n.7218+7T>G | |
| XM_011538766.1:c.6540+7T>G | XP_011537068.1:n.6540+7T>G | |
| XM_011538756.3:c.8079+7T>G | XP_011537058.1:n.8079+7T>G | |
| XM_011538757.3:c.8079+7T>G | XP_011537059.1:n.8079+7T>G | |
| XM_011538758.3:c.8076+7T>G | XP_011537060.1:n.8076+7T>G | |
| XM_011538759.2:c.8070+7T>G | XP_011537061.1:n.8070+7T>G | |
| XM_011538760.2:c.7956+7T>G | XP_011537062.1:n.7956+7T>G | |
| XM_011538761.2:c.7914+7T>G | XP_011537063.1:n.7914+7T>G | |
| XM_011538762.3:c.7311+7T>G | XP_011537064.1:n.7311+7T>G | |
| XM_011538763.3:c.7218+7T>G | XP_011537065.1:n.7218+7T>G | |
| XM_011538766.3:c.6540+7T>G | XP_011537068.1:n.6540+7T>G | |
| XM_017019980.2:c.7947+7T>G | XP_016875469.1:n.7947+7T>G | |
| XM_017019981.2:c.7905+7T>G | XP_016875470.1:n.7905+7T>G | |
| XM_017019983.2:c.7197+7T>G | XP_016875472.1:n.7197+7T>G | |
| XR_001748869.1:n.8340+7T>G | ||
| XR_001748870.2:n.8175+7T>G | ||
| NM_025114.4:c.7209+7T>G MANE Select | NP_079390.3:n.7209+7T>G |