Linked Data
ClinVar Variation Id:
313876
dbSNP Id:
rs74935043
ExAC:
14:68221905 T / C
gnomAD v2:
14-68221905-T-C
gnomAD v3:
14-67755188-T-C
gnomAD v4:
14-67755188-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67755188T>C , CM000676.2:g.67755188T>C | GRCh38 |
| NC_000014.8:g.68221905T>C , CM000676.1:g.68221905T>C | GRCh37 |
| NC_000014.7:g.67291658T>C | NCBI36 |
| NG_011836.1:g.66402A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.6849A>G MANE Select | ENSP00000251119.5:p.Thr2283= | |
| ENST00000676512.1:c.6867A>G | ENSP00000504552.1:p.Thr2289= | |
| ENST00000676620.1:c.6771A>G | ENSP00000504587.1:p.Thr2257= | |
| ENST00000678386.1:c.6894A>G | ENSP00000503677.1:p.Thr2298= | |
| ENST00000347230.8:c.6849A>G | ENSP00000251119.5:p.Thr2283= | |
| ENST00000394455.6:n.2112A>G | ||
| ENST00000554523.5:n.7604A>G | ||
| ENST00000554557.5:c.*4827A>G | ENSP00000450431.1:n.*4827A>G | |
| ENST00000554783.1:n.537A>G | ||
| ENST00000557306.1:c.387A>G | ENSP00000452142.1:p.Thr129= | |
| NM_015346.3:c.6849A>G | NP_056161.2:p.Thr2283= | |
| XM_006720093.2:c.6849A>G | XP_006720156.1:p.Thr2283= | |
| XM_011536606.1:c.5340A>G | XP_011534908.1:p.Thr1780= | |
| XM_011536607.1:c.4524A>G | XP_011534909.1:p.Thr1508= | |
| XM_011536608.1:c.4431A>G | XP_011534910.1:p.Thr1477= | |
| XM_017021124.1:c.6867A>G | XP_016876613.1:p.Thr2289= | |
| XM_017021125.1:c.6867A>G | XP_016876614.1:p.Thr2289= | |
| XM_017021126.1:c.5358A>G | XP_016876615.1:p.Thr1786= | |
| XM_017021127.2:c.4542A>G | XP_016876616.1:p.Thr1514= | |
| XM_017021128.1:c.4449A>G | XP_016876617.1:p.Thr1483= | |
| NM_015346.4:c.6849A>G MANE Select | NP_056161.2:p.Thr2283= |