Linked Data
ClinVar Variation Id:
434071
dbSNP Id:
rs149365469
ExAC:
16:67694102 C / T
gnomAD v2:
16-67694102-C-T
gnomAD v3:
16-67660199-C-T
gnomAD v4:
16-67660199-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67660199C>T , CM000678.2:g.67660199C>T | GRCh38 |
| NC_000016.9:g.67694102C>T , CM000678.1:g.67694102C>T | GRCh37 |
| NC_000016.8:g.66251603C>T | NCBI36 |
| NG_042874.1:g.5617G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602382.6:c.22G>A | ENSP00000473313.2:p.Val8Ile | |
| ENST00000602519.2:n.47G>A | ||
| ENST00000602780.2:n.105G>A | ||
| ENST00000602850.6:c.22G>A | ENSP00000473595.3:p.Val8Ile | |
| ENST00000602860.6:n.565G>A | ||
| ENST00000602945.6:n.88G>A | ||
| ENST00000695641.1:n.562G>A | ||
| ENST00000695648.1:c.22G>A | ENSP00000512081.1:p.Val8Ile | |
| ENST00000695649.1:n.562G>A | ||
| ENST00000695650.1:c.22G>A | ENSP00000512082.1:p.Val8Ile | |
| ENST00000695656.1:n.92G>A | ||
| ENST00000695657.1:n.50G>A | ||
| ENST00000695658.1:c.22G>A | ENSP00000512088.1:p.Val8Ile | |
| ENST00000695659.1:c.22G>A | ENSP00000512089.1:p.Val8Ile | |
| ENST00000695660.1:n.82G>A | ||
| ENST00000695661.1:c.22G>A | ENSP00000512090.1:p.Val8Ile | |
| ENST00000695662.1:c.22G>A | ENSP00000512091.1:p.Val8Ile | |
| ENST00000695663.1:n.78G>A | ||
| ENST00000695694.1:c.22G>A | ENSP00000512105.1:p.Val8Ile | |
| ENST00000695695.1:n.92G>A | ||
| ENST00000695696.1:n.26G>A | ||
| ENST00000695697.1:c.22G>A | ENSP00000512106.1:p.Val8Ile | |
| ENST00000695698.1:n.44G>A | ||
| ENST00000695699.1:n.50G>A | ||
| ENST00000695701.1:n.28G>A | ||
| ENST00000695711.1:c.22G>A | ENSP00000512109.1:p.Val8Ile | |
| ENST00000695712.1:c.22G>A | ENSP00000512110.1:p.Val8Ile | |
| ENST00000695732.1:c.22G>A | ENSP00000512125.1:p.Val8Ile | |
| ENST00000695733.1:c.22G>A | ENSP00000512126.1:p.Val8Ile | |
| ENST00000695734.1:c.22G>A | ENSP00000512127.1:p.Val8Ile | |
| ENST00000219251.13:c.22G>A | ENSP00000219251.8:p.Val8Ile | |
| ENST00000620761.6:c.22G>A MANE Select | ENSP00000478084.1:p.Val8Ile | |
| ENST00000219251.12:c.280G>A | ENSP00000219251.7:p.Val94Ile | |
| ENST00000393919.8:c.280G>A | ENSP00000377496.4:p.Val94Ile | |
| ENST00000602320.1:c.22G>A | ENSP00000473679.2:p.Val8Ile | |
| ENST00000602423.1:n.66G>A | ||
| ENST00000602519.1:n.34G>A | ||
| ENST00000602622.5:n.73G>A | ||
| ENST00000602780.1:n.105G>A | ||
| ENST00000602821.1:n.73G>A | ||
| ENST00000602860.5:n.83G>A | ||
| ENST00000602945.5:n.16G>A | ||
| ENST00000620338.4:c.280G>A | ENSP00000483117.1:p.Val94Ile | |
| ENST00000620761.4:c.22G>A | ENSP00000478084.1:p.Val8Ile | |
| NM_001082486.1:c.280G>A | NP_001075955.1:p.Val94Ile | |
| NM_001082487.1:c.280G>A | NP_001075956.1:p.Val94Ile | |
| NM_022914.2:c.280G>A | NP_075065.2:p.Val94Ile | |
| XM_005256115.2:c.280G>A | XP_005256172.1:p.Val94Ile | |
| XR_429727.2:n.617G>A | ||
| XR_429728.2:n.617G>A | ||
| NM_001082486.2:c.22G>A MANE Select | NP_001075955.2:p.Val8Ile | |
| NM_022914.3:c.22G>A | NP_075065.3:p.Val8Ile | |
| XM_005256115.4:c.280G>A | XP_005256172.1:p.Val94Ile | |
| XR_429727.3:n.630G>A | ||
| XR_429728.3:n.634G>A |