Linked Data
ClinVar Variation Id:
542421
dbSNP Id:
rs139438549
ExAC:
16:67692863 T / C
gnomAD v2:
16-67692863-T-C
gnomAD v3:
16-67658960-T-C
gnomAD v4:
16-67658960-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67658960T>C , CM000678.2:g.67658960T>C | GRCh38 |
| NC_000016.9:g.67692863T>C , CM000678.1:g.67692863T>C | GRCh37 |
| NC_000016.8:g.66250364T>C | NCBI36 |
| NG_042874.1:g.6856A>G | |
| NG_054728.1:g.19042T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602382.6:c.613A>G | ENSP00000473313.2:p.Thr205Ala | |
| ENST00000602519.2:n.1103A>G | ||
| ENST00000602780.2:n.1237A>G | ||
| ENST00000602850.6:c.*393A>G | ENSP00000473595.3:n.*393A>G | |
| ENST00000602860.6:n.1533A>G | ||
| ENST00000602945.6:n.755A>G | ||
| ENST00000695641.1:n.1530A>G | ||
| ENST00000695648.1:c.595A>G | ENSP00000512081.1:p.Thr199Ala | |
| ENST00000695649.1:n.1606A>G | ||
| ENST00000695650.1:c.*375A>G | ENSP00000512082.1:n.*375A>G | |
| ENST00000695656.1:n.1060A>G | ||
| ENST00000695657.1:n.1018A>G | ||
| ENST00000695658.1:c.613A>G | ENSP00000512088.1:p.Thr205Ala | |
| ENST00000695659.1:c.613A>G | ENSP00000512089.1:p.Thr205Ala | |
| ENST00000695660.1:n.1126A>G | ||
| ENST00000695661.1:c.*92A>G | ENSP00000512090.1:n.*92A>G | |
| ENST00000695662.1:c.*92A>G | ENSP00000512091.1:n.*92A>G | |
| ENST00000695694.1:c.568A>G | ENSP00000512105.1:p.Thr190Ala | |
| ENST00000695695.1:n.679A>G | ||
| ENST00000695696.1:n.994A>G | ||
| ENST00000695697.1:c.613A>G | ENSP00000512106.1:p.Thr205Ala | |
| ENST00000695698.1:n.863A>G | ||
| ENST00000695699.1:n.901A>G | ||
| ENST00000695700.1:n.978A>G | ||
| ENST00000695701.1:n.996A>G | ||
| ENST00000695702.1:n.728A>G | ||
| ENST00000695709.1:n.265A>G | ||
| ENST00000695710.1:n.866A>G | ||
| ENST00000695711.1:c.613A>G | ENSP00000512109.1:p.Thr205Ala | |
| ENST00000695712.1:c.*363A>G | ENSP00000512110.1:n.*363A>G | |
| ENST00000695713.1:c.242A>G | ENSP00000512111.1:n.242A>G | |
| ENST00000695731.1:c.120A>G | ||
| ENST00000695732.1:c.613A>G | ENSP00000512125.1:p.Thr205Ala | |
| ENST00000695733.1:c.613A>G | ENSP00000512126.1:p.Thr205Ala | |
| ENST00000695734.1:c.613A>G | ENSP00000512127.1:p.Thr205Ala | |
| ENST00000695735.1:n.120A>G | ||
| ENST00000695736.1:c.158-144A>G | ENSP00000512129.1:n.158-144A>G | |
| ENST00000219251.13:c.604A>G | ENSP00000219251.8:p.Thr202Ala | |
| ENST00000620761.6:c.613A>G MANE Select | ENSP00000478084.1:p.Thr205Ala | |
| ENST00000219251.12:c.862A>G | ENSP00000219251.7:p.Thr288Ala | |
| ENST00000393919.8:c.871A>G | ENSP00000377496.4:p.Thr291Ala | |
| ENST00000602320.1:c.604A>G | ENSP00000473679.2:p.Thr202Ala | |
| ENST00000602382.5:c.155A>G | ||
| ENST00000602622.5:n.1231A>G | ||
| ENST00000602850.5:c.444A>G | ENSP00000473595.2:n.444A>G | |
| ENST00000602860.5:n.1051A>G | ||
| ENST00000602945.5:n.683A>G | ||
| ENST00000620338.4:c.871A>G | ENSP00000483117.1:p.Thr291Ala | |
| ENST00000620761.4:c.613A>G | ENSP00000478084.1:p.Thr205Ala | |
| NM_001082486.1:c.871A>G | NP_001075955.1:p.Thr291Ala | |
| NM_001082487.1:c.862A>G | NP_001075956.1:p.Thr288Ala | |
| NM_022914.2:c.862A>G | NP_075065.2:p.Thr288Ala | |
| XM_005256115.2:c.871A>G | XP_005256172.1:p.Thr291Ala | |
| XR_429727.2:n.1208A>G | ||
| XR_429728.2:n.1208A>G | ||
| NM_001082486.2:c.613A>G MANE Select | NP_001075955.2:p.Thr205Ala | |
| NM_022914.3:c.604A>G | NP_075065.3:p.Thr202Ala | |
| XM_005256115.4:c.871A>G | XP_005256172.1:p.Thr291Ala | |
| XR_429727.3:n.1221A>G | ||
| XR_429728.3:n.1225A>G |