Linked Data
ClinVar Variation Id:
406697
dbSNP Id:
rs748864758
ExAC:
11:32417856 T / G
gnomAD v2:
11-32417856-T-G
gnomAD v3:
11-32396310-T-G
gnomAD v4:
11-32396310-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396310T>G , CM000673.2:g.32396310T>G | GRCh38 |
| NC_000011.9:g.32417856T>G , CM000673.1:g.32417856T>G | GRCh37 |
| NC_000011.8:g.32374432T>G | NCBI36 |
| NG_009272.1:g.44232A>C , LRG_525:g.44232A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1160A>C | ENSP00000331327.5:p.Asn387Thr | |
| ENST00000379077.9:c.*395A>C | ENSP00000368368.5:n.*395A>C | |
| ENST00000379079.8:c.560A>C | ENSP00000368370.2:p.Asn187Thr | |
| ENST00000448076.9:c.1211A>C | ENSP00000413452.5:p.Asn404Thr | |
| ENST00000452863.10:c.1211A>C MANE Select | ENSP00000415516.5:p.Asn404Thr | |
| ENST00000526685.2:n.665A>C | ||
| ENST00000639563.3:c.1160A>C | ENSP00000492269.3:p.Asn387Thr | |
| ENST00000639907.2:n.354A>C | ||
| ENST00000640146.2:c.536A>C | ENSP00000491984.2:p.Asn179Thr | |
| ENST00000650861.1:n.1792A>C | ||
| ENST00000651459.1:c.36-3555A>C | ||
| ENST00000651668.1:n.148A>C | ||
| ENST00000651794.1:n.954A>C | ||
| ENST00000651819.1:n.136A>C | ||
| ENST00000652579.1:n.371A>C | ||
| ENST00000652724.1:n.401A>C | ||
| ENST00000332351.7:c.1196A>C | ENSP00000331327.3:p.Asn399Thr | |
| ENST00000379077.7:c.*395A>C | ENSP00000368368.3:n.*395A>C | |
| ENST00000379079.6:c.560A>C | ENSP00000368370.2:p.Asn187Thr | |
| ENST00000448076.7:c.1196A>C | ENSP00000413452.3:p.Asn399Thr | |
| ENST00000452863.7:c.1145A>C | ENSP00000415516.3:p.Asn382Thr | |
| ENST00000526685.1:c.23A>C | ENSP00000436292.1:p.Asn8Thr | |
| ENST00000527882.5:c.267A>C | ||
| ENST00000530998.5:c.509A>C | ENSP00000435307.1:p.Asn170Thr | |
| NM_000378.4:c.1145A>C | NP_000369.3:p.Asn382Thr | |
| NM_001198551.1:c.560A>C , LRG_525t2:c.560A>C | NP_001185480.1:p.Asn187Thr | |
| NM_001198552.1:c.509A>C | NP_001185481.1:p.Asn170Thr | |
| NM_024424.3:c.1196A>C | NP_077742.2:p.Asn399Thr | |
| NM_024426.4:c.1196A>C | NP_077744.3:p.Asn399Thr | |
| NM_000378.5:c.1160A>C | NP_000369.4:p.Asn387Thr | |
| NM_024424.4:c.1211A>C | NP_077742.3:p.Asn404Thr | |
| NM_024426.5:c.1211A>C | NP_077744.4:p.Asn404Thr | |
| NM_001367854.1:c.23A>C | NP_001354783.1:p.Asn8Thr | |
| NR_160306.1:n.1543A>C | ||
| NM_000378.6:c.1160A>C | NP_000369.4:p.Asn387Thr | |
| NM_001198552.2:c.509A>C | NP_001185481.1:p.Asn170Thr | |
| NM_024424.5:c.1211A>C | NP_077742.3:p.Asn404Thr | |
| NM_024426.6:c.1211A>C MANE Select | NP_077744.4:p.Asn404Thr |