Linked Data
ClinVar Variation Id:
458293
dbSNP Id:
rs146227863
ExAC:
14:68221836 T / A
gnomAD v2:
14-68221836-T-A
gnomAD v3:
14-67755119-T-A
gnomAD v4:
14-67755119-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67755119T>A , CM000676.2:g.67755119T>A | GRCh38 |
| NC_000014.8:g.68221836T>A , CM000676.1:g.68221836T>A | GRCh37 |
| NC_000014.7:g.67291589T>A | NCBI36 |
| NG_011836.1:g.66471A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.6918A>T MANE Select | ENSP00000251119.5:p.Thr2306= | |
| ENST00000676512.1:c.6936A>T | ENSP00000504552.1:p.Thr2312= | |
| ENST00000676620.1:c.6840A>T | ENSP00000504587.1:p.Thr2280= | |
| ENST00000678386.1:c.6963A>T | ENSP00000503677.1:p.Thr2321= | |
| ENST00000347230.8:c.6918A>T | ENSP00000251119.5:p.Thr2306= | |
| ENST00000394455.6:n.2181A>T | ||
| ENST00000554523.5:n.7673A>T | ||
| ENST00000554557.5:c.*4896A>T | ENSP00000450431.1:n.*4896A>T | |
| ENST00000554783.1:n.606A>T | ||
| ENST00000557306.1:c.456A>T | ENSP00000452142.1:p.Thr152= | |
| NM_015346.3:c.6918A>T | NP_056161.2:p.Thr2306= | |
| XM_006720093.2:c.6918A>T | XP_006720156.1:p.Thr2306= | |
| XM_011536606.1:c.5409A>T | XP_011534908.1:p.Thr1803= | |
| XM_011536607.1:c.4593A>T | XP_011534909.1:p.Thr1531= | |
| XM_011536608.1:c.4500A>T | XP_011534910.1:p.Thr1500= | |
| XM_017021124.1:c.6936A>T | XP_016876613.1:p.Thr2312= | |
| XM_017021125.1:c.6936A>T | XP_016876614.1:p.Thr2312= | |
| XM_017021126.1:c.5427A>T | XP_016876615.1:p.Thr1809= | |
| XM_017021127.2:c.4611A>T | XP_016876616.1:p.Thr1537= | |
| XM_017021128.1:c.4518A>T | XP_016876617.1:p.Thr1506= | |
| NM_015346.4:c.6918A>T MANE Select | NP_056161.2:p.Thr2306= |