Linked Data
ClinVar Variation Id:
291537
dbSNP Id:
rs538837278
ExAC:
1:103488363 T / C
gnomAD v2:
1-103488363-T-C
gnomAD v3:
1-103022807-T-C
gnomAD v4:
1-103022807-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103022807T>C , CM000663.2:g.103022807T>C | GRCh38 |
| NC_000001.10:g.103488363T>C , CM000663.1:g.103488363T>C | GRCh37 |
| NC_000001.9:g.103260951T>C | NCBI36 |
| NG_008033.1:g.90690A>G | |
| NG_008033.2:g.90690A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.1180A>G MANE Select | ENSP00000359114.3:p.Thr394Ala | |
| ENST00000461720.6:c.1333A>G | ENSP00000494909.1:p.Thr445Ala | |
| ENST00000644186.1:c.1180A>G | ENSP00000493821.1:p.Thr394Ala | |
| ENST00000645458.1:c.1180A>G | ENSP00000494179.1:p.Thr394Ala | |
| ENST00000647280.1:c.1180A>G | ENSP00000494583.1:p.Thr394Ala | |
| ENST00000353414.8:c.1063A>G | ENSP00000302551.6:p.Thr355Ala | |
| ENST00000358392.6:c.1216A>G | ENSP00000351163.2:p.Thr406Ala | |
| ENST00000370096.7:c.1180A>G | ENSP00000359114.3:p.Thr394Ala | |
| ENST00000427239.5:c.1216A>G | ENSP00000408640.1:p.Thr406Ala | |
| ENST00000512756.5:c.898-1038A>G | ENSP00000426533.1:n.898-1038A>G | |
| ENST00000635193.1:c.498A>G | ||
| NM_001190709.1:c.1063A>G | NP_001177638.1:p.Thr355Ala | |
| NM_001854.3:c.1180A>G | NP_001845.3:p.Thr394Ala | |
| NM_080629.2:c.1216A>G | NP_542196.2:p.Thr406Ala | |
| NM_080630.3:c.898-1038A>G | NP_542197.3:n.898-1038A>G | |
| XM_011540719.1:c.1180A>G | XP_011539021.1:p.Thr394Ala | |
| XM_011540721.1:c.-1249A>G | XP_011539023.1:n.-1249A>G | |
| XR_946545.1:n.1578A>G | ||
| NR_134980.1:n.1498A>G | ||
| XM_017000334.1:c.1333A>G | XP_016855823.1:p.Thr445Ala | |
| XM_017000335.1:c.1327A>G | XP_016855824.1:p.Thr443Ala | |
| XM_017000336.1:c.1333A>G | XP_016855825.1:p.Thr445Ala | |
| XM_017000337.1:c.-316A>G | XP_016855826.1:n.-316A>G | |
| NM_001854.4:c.1180A>G MANE Select | NP_001845.3:p.Thr394Ala | |
| NM_080630.4:c.898-1038A>G | NP_542197.3:n.898-1038A>G | |
| NR_134980.2:n.1524A>G | ||
| NM_001190709.2:c.1063A>G | NP_001177638.1:p.Thr355Ala | |
| NM_080629.3:c.1216A>G | NP_542196.2:p.Thr406Ala |