Linked Data
ClinVar Variation Id:
301098
dbSNP Id:
rs114512325
ExAC:
10:79800374 C / T
gnomAD v2:
10-79800374-C-T
gnomAD v3:
10-78040616-C-T
gnomAD v4:
10-78040616-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78040616C>T , CM000672.2:g.78040616C>T | GRCh38 |
| NC_000010.10:g.79800374C>T , CM000672.1:g.79800374C>T | GRCh37 |
| NC_000010.9:g.79470380C>T | NCBI36 |
| NG_012633.1:g.11857C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360830.9:c.*21C>T | ENSP00000354074.5:n.*21C>T | |
| ENST00000372360.9:c.*21C>T MANE Select | ENSP00000361435.4:n.*21C>T | |
| ENST00000440692.6:c.390+3312C>T | ENSP00000414321.1:n.390+3312C>T | |
| ENST00000464716.6:c.*36C>T | ENSP00000494231.1:n.*36C>T | |
| ENST00000465692.2:n.403C>T | ||
| ENST00000476545.6:c.390+3312C>T | ENSP00000494169.1:n.390+3312C>T | |
| ENST00000480662.2:n.2061C>T | ||
| ENST00000613865.5:c.392C>T | ENSP00000478869.2:p.Pro131Leu | |
| ENST00000645195.1:c.319C>T | ||
| ENST00000645440.1:c.*36C>T | ENSP00000496738.1:n.*36C>T | |
| ENST00000645698.1:n.3207C>T | ||
| ENST00000360830.8:c.*21C>T | ENSP00000354074.4:n.*21C>T | |
| ENST00000372360.7:c.392C>T | ENSP00000361435.3:p.Pro131Leu | |
| ENST00000435275.5:c.*21C>T | ENSP00000415549.1:n.*21C>T | |
| ENST00000440692.5:c.390+3312C>T | ENSP00000414321.1:n.390+3312C>T | |
| ENST00000465692.1:n.387+3312C>T | ||
| ENST00000476545.5:n.414+3312C>T | ||
| ENST00000480662.1:n.630C>T | ||
| ENST00000482069.5:n.459C>T | ||
| ENST00000485708.6:n.490C>T | ||
| NM_001026.4:c.392C>T | NP_001017.1:p.Pro131Leu | |
| NM_001142282.1:c.*21C>T | NP_001135754.1:n.*21C>T | |
| NM_001142283.1:c.*36C>T | NP_001135755.1:n.*36C>T | |
| NM_001142284.1:c.*36C>T | NP_001135756.1:n.*36C>T | |
| NM_001142285.1:c.390+3312C>T | NP_001135757.1:n.390+3312C>T | |
| NM_033022.3:c.*21C>T | NP_148982.1:n.*21C>T | |
| XM_011540034.1:c.545C>T | XP_011538336.1:p.Pro182Leu | |
| XM_011540035.1:c.*36C>T | XP_011538337.1:n.*36C>T | |
| XM_011540036.1:c.*21C>T | XP_011538338.1:n.*21C>T | |
| XM_011540037.1:c.*36C>T | XP_011538339.1:n.*36C>T | |
| XM_011540038.1:c.*21C>T | XP_011538340.1:n.*21C>T | |
| NM_001142285.2:c.390+3312C>T | NP_001135757.1:n.390+3312C>T | |
| NM_033022.4:c.*21C>T MANE Select | NP_148982.1:n.*21C>T | |
| NM_001026.5:c.392C>T | NP_001017.1:p.Pro131Leu | |
| NM_001142282.2:c.*21C>T | NP_001135754.1:n.*21C>T | |
| NM_001142283.2:c.*36C>T | NP_001135755.1:n.*36C>T | |
| NM_001142284.2:c.*36C>T | NP_001135756.1:n.*36C>T |