Linked Data
ClinVar Variation Id:
405791
dbSNP Id:
rs779102091
ExAC:
12:133244199 T / C
gnomAD v2:
12-133244199-T-C
gnomAD v3:
12-132667613-T-C
gnomAD v4:
12-132667613-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132667613T>C , CM000674.2:g.132667613T>C | GRCh38 |
| NC_000012.11:g.133244199T>C , CM000674.1:g.133244199T>C | GRCh37 |
| NC_000012.10:g.131754272T>C | NCBI36 |
| NG_033840.1:g.24912A>G , LRG_789:g.24912A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699982.1:c.2063A>G | ||
| ENST00000699983.1:c.2063A>G | ||
| ENST00000699984.1:c.2063A>G | ||
| ENST00000320574.10:c.2209A>G MANE Select | ENSP00000322570.5:p.Thr737Ala | |
| ENST00000672742.1:c.*1711A>G | ENSP00000500279.1:n.*1711A>G | |
| ENST00000320574.9:c.2209A>G | ENSP00000322570.5:p.Thr737Ala | |
| ENST00000535270.5:c.2128A>G | ENSP00000445753.1:p.Thr710Ala | |
| ENST00000537064.5:c.*1256A>G | ENSP00000442578.1:n.*1256A>G | |
| NM_006231.3:c.2209A>G , LRG_789t1:c.2209A>G | NP_006222.2:p.Thr737Ala | |
| XM_011534795.1:c.2209A>G | XP_011533097.1:p.Thr737Ala | |
| XM_011534796.1:c.2080A>G | XP_011533098.1:p.Thr694Ala | |
| XM_011534797.1:c.1288A>G | XP_011533099.1:p.Thr430Ala | |
| XM_011534798.1:c.871A>G | XP_011533100.1:p.Thr291Ala | |
| XM_011534799.1:c.2209A>G | XP_011533101.1:p.Thr737Ala | |
| XM_011534800.1:c.2209A>G | XP_011533102.1:p.Thr737Ala | |
| XM_011534801.1:c.2209A>G | XP_011533103.1:p.Thr737Ala | |
| XR_941395.1:n.2418A>G | ||
| XM_011534795.3:c.2209A>G | XP_011533097.1:p.Thr737Ala | |
| XM_011534797.3:c.1288A>G | XP_011533099.1:p.Thr430Ala | |
| XM_011534799.2:c.2209A>G | XP_011533101.1:p.Thr737Ala | |
| XR_002957338.1:n.2413A>G | ||
| XR_002957339.1:n.2413A>G | ||
| XR_941395.2:n.2413A>G | ||
| NM_006231.4:c.2209A>G MANE Select | NP_006222.2:p.Thr737Ala |