Linked Data
ClinVar Variation Id:
298977
dbSNP Id:
rs886046759
gnomAD v3:
10-121478488-G-A
gnomAD v4:
10-121478488-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121478488G>A , CM000672.2:g.121478488G>A | GRCh38 |
| NC_000010.10:g.123238002G>A , CM000672.1:g.123238002G>A | GRCh37 |
| NC_000010.9:g.123227992G>A | NCBI36 |
| NG_012449.1:g.124971C>T | |
| NG_012449.2:g.124971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457416.7:c.*1369C>T MANE Plus Clinical | ENSP00000410294.2:n.*1369C>T | |
| ENST00000351936.11:c.*1369C>T | ENSP00000309878.10:n.*1369C>T | |
| ENST00000638709.2:c.*1369C>T | ENSP00000491912.2:n.*1369C>T | |
| ENST00000682296.1:n.3177C>T | ||
| ENST00000682550.1:c.*1369C>T | ENSP00000507633.1:n.*1369C>T | |
| ENST00000682772.1:c.*1369C>T | ENSP00000506848.1:n.*1369C>T | |
| ENST00000682904.1:n.2655C>T | ||
| ENST00000683029.1:n.3838C>T | ||
| ENST00000683211.1:c.*1369C>T | ENSP00000508257.1:n.*1369C>T | |
| ENST00000683250.1:c.*4128C>T | ENSP00000506847.1:n.*4128C>T | |
| ENST00000683418.1:n.6176C>T | ||
| ENST00000684153.1:c.*1563C>T | ENSP00000506937.1:n.*1563C>T | |
| ENST00000684516.1:n.4848C>T | ||
| ENST00000358487.10:c.*1369C>T MANE Select | ENSP00000351276.6:n.*1369C>T | |
| ENST00000357555.9:c.*1093C>T | ENSP00000350166.5:n.*1093C>T | |
| ENST00000358487.9:c.*1369C>T | ENSP00000351276.5:n.*1369C>T | |
| ENST00000369061.8:c.*1369C>T | ENSP00000358057.4:n.*1369C>T | |
| ENST00000478859.5:c.*1369C>T | ENSP00000474011.1:n.*1369C>T | |
| ENST00000613048.4:c.*1369C>T | ENSP00000484154.1:n.*1369C>T | |
| NM_000141.4:c.*1369C>T | NP_000132.3:n.*1369C>T | |
| NM_001144914.1:c.*1369C>T | NP_001138386.1:n.*1369C>T | |
| NM_001144915.1:c.*1093C>T | NP_001138387.1:n.*1093C>T | |
| NM_001144916.1:c.*1369C>T | NP_001138388.1:n.*1369C>T | |
| NM_001144917.1:c.*1369C>T | NP_001138389.1:n.*1369C>T | |
| NM_001144918.1:c.*1369C>T | NP_001138390.1:n.*1369C>T | |
| NM_022970.3:c.*1369C>T | NP_075259.4:n.*1369C>T | |
| NM_023029.2:c.*1369C>T | NP_075418.1:n.*1369C>T | |
| NR_073009.1:n.4285C>T | ||
| XM_006717708.2:c.*1369C>T | XP_006717771.1:n.*1369C>T | |
| XM_006717709.2:c.*1369C>T | XP_006717772.1:n.*1369C>T | |
| XM_006717711.2:c.*1369C>T | XP_006717774.1:n.*1369C>T | |
| XM_006717712.2:c.*1369C>T | XP_006717775.1:n.*1369C>T | |
| XM_011539510.1:c.*1369C>T | XP_011537812.1:n.*1369C>T | |
| NM_001320654.1:c.*1369C>T | NP_001307583.1:n.*1369C>T | |
| NM_001320658.1:c.*1369C>T | NP_001307587.1:n.*1369C>T | |
| XM_006717708.3:c.*1369C>T | XP_006717771.1:n.*1369C>T | |
| XM_006717710.4:c.*1563C>T | XP_006717773.1:n.*1563C>T | |
| XM_017015920.2:c.*1563C>T | XP_016871409.1:n.*1563C>T | |
| XM_017015921.2:c.*1563C>T | XP_016871410.1:n.*1563C>T | |
| XM_017015924.2:c.*1369C>T | XP_016871413.1:n.*1369C>T | |
| XM_017015925.2:c.*1563C>T | XP_016871414.1:n.*1563C>T | |
| XM_024447887.1:c.*1369C>T | XP_024303655.1:n.*1369C>T | |
| XM_024447888.1:c.*1369C>T | XP_024303656.1:n.*1369C>T | |
| XM_024447889.1:c.*1369C>T | XP_024303657.1:n.*1369C>T | |
| XM_024447890.1:c.*1369C>T | XP_024303658.1:n.*1369C>T | |
| XM_024447891.1:c.*1369C>T | XP_024303659.1:n.*1369C>T | |
| XM_024447892.1:c.*1369C>T | XP_024303660.1:n.*1369C>T | |
| NM_000141.5:c.*1369C>T MANE Select | NP_000132.3:n.*1369C>T | |
| NM_001144917.2:c.*1369C>T | NP_001138389.1:n.*1369C>T | |
| NM_001144918.2:c.*1369C>T | NP_001138390.1:n.*1369C>T | |
| NM_001320658.2:c.*1369C>T | NP_001307587.1:n.*1369C>T | |
| NR_073009.2:n.4271C>T | ||
| NM_001144915.2:c.*1093C>T | NP_001138387.1:n.*1093C>T | |
| NM_001144916.2:c.*1369C>T | NP_001138388.1:n.*1369C>T | |
| NM_001320654.2:c.*1369C>T | NP_001307583.1:n.*1369C>T |