gnomAD v2:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119721323T>C , CM000663.2:g.119721323T>C | GRCh38 |
| NC_000001.10:g.120263946T>C , CM000663.1:g.120263946T>C | GRCh37 |
| NC_000001.9:g.120065469T>C | NCBI36 |
| NG_009188.1:g.14528T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.290+2T>C | ENSP00000358417.5:n.290+2T>C | |
| ENST00000462324.2:n.373+2T>C | ||
| ENST00000496756.2:n.426+2T>C | ||
| ENST00000641023.2:c.290+2T>C MANE Select | ENSP00000493175.1:n.290+2T>C | |
| ENST00000641074.1:c.290+2T>C | ENSP00000493446.1:n.290+2T>C | |
| ENST00000641115.1:c.290+2T>C | ENSP00000493264.1:n.290+2T>C | |
| ENST00000641213.1:c.290+2T>C | ENSP00000493079.1:n.290+2T>C | |
| ENST00000641247.1:c.292T>C | ENSP00000492955.1:p.Ter98Gln | |
| ENST00000641272.1:c.290+2T>C | ENSP00000493432.1:n.290+2T>C | |
| ENST00000641314.1:n.275+2T>C | ||
| ENST00000641371.1:c.204+2T>C | ENSP00000493305.1:n.204+2T>C | |
| ENST00000641375.1:c.290+2T>C | ENSP00000493089.1:n.290+2T>C | |
| ENST00000641491.1:c.290+2T>C | ENSP00000493187.1:n.290+2T>C | |
| ENST00000641513.1:c.290+2T>C | ENSP00000493398.1:n.290+2T>C | |
| ENST00000641570.1:c.290+2T>C | ENSP00000493213.1:n.290+2T>C | |
| ENST00000641573.1:n.378+2T>C | ||
| ENST00000641587.1:c.*1+2T>C | ENSP00000493453.1:n.*1+2T>C | |
| ENST00000641597.1:c.290+2T>C | ENSP00000493382.1:n.290+2T>C | |
| ENST00000641711.1:n.514+2T>C | ||
| ENST00000641756.1:c.5+2T>C | ENSP00000493147.1:n.5+2T>C | |
| ENST00000641811.1:c.46+2T>C | ||
| ENST00000641891.1:c.290+2T>C | ENSP00000493288.1:n.290+2T>C | |
| ENST00000641927.1:n.230+2T>C | ||
| ENST00000641947.1:c.290+2T>C | ENSP00000492994.1:n.290+2T>C | |
| ENST00000642021.1:n.412+2T>C | ||
| ENST00000642041.1:c.292T>C | ENSP00000493415.1:p.Ter98Gln | |
| ENST00000369407.3:c.188+2T>C | ENSP00000358415.3:n.188+2T>C | |
| ENST00000369409.8:c.290+2T>C | ENSP00000358417.4:n.290+2T>C | |
| ENST00000462324.1:n.407+2T>C | ||
| ENST00000493622.5:n.479+2T>C | ||
| ENST00000496756.1:n.431T>C | ||
| NM_006623.3:c.290+2T>C | NP_006614.2:n.290+2T>C | |
| XM_011541226.1:c.290+2T>C | XP_011539528.1:n.290+2T>C | |
| XM_011541227.1:c.212+2T>C | XP_011539529.1:n.212+2T>C | |
| XM_011541228.1:c.179+2T>C | XP_011539530.1:n.179+2T>C | |
| XM_011541229.1:c.5+2T>C | XP_011539531.1:n.5+2T>C | |
| XM_011541230.1:c.5+2T>C | XP_011539532.1:n.5+2T>C | |
| XM_011541231.1:c.-247+2T>C | XP_011539533.1:n.-247+2T>C | |
| XM_011541226.2:c.290+2T>C | XP_011539528.1:n.290+2T>C | |
| XM_011541227.2:c.212+2T>C | XP_011539529.1:n.212+2T>C | |
| XM_011541228.2:c.179+2T>C | XP_011539530.1:n.179+2T>C | |
| XM_011541231.2:c.-247+2T>C | XP_011539533.1:n.-247+2T>C | |
| XM_024446338.1:c.179+2T>C | XP_024302106.1:n.179+2T>C | |
| NM_006623.4:c.290+2T>C MANE Select | NP_006614.2:n.290+2T>C |