Linked Data
ClinVar Variation Id:
142032
dbSNP Id:
rs562517792
ExAC:
22:29083920 T / C
gnomAD v2:
22-29083920-T-C
gnomAD v3:
22-28687932-T-C
gnomAD v4:
22-28687932-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28687932T>C , CM000684.2:g.28687932T>C | GRCh38 |
| NC_000022.10:g.29083920T>C , CM000684.1:g.29083920T>C | GRCh37 |
| NC_000022.9:g.27413920T>C | NCBI36 |
| NG_008150.1:g.58903A>G | |
| NG_008150.2:g.58935A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*332A>G | ENSP00000518557.1:n.*332A>G | |
| ENST00000402731.6:c.1396A>G | ENSP00000384835.2:p.Thr466Ala | |
| ENST00000404276.6:c.1597A>G MANE Select | ENSP00000385747.1:p.Thr533Ala | |
| ENST00000425190.7:c.934A>G | ENSP00000390244.2:p.Thr312Ala | |
| ENST00000464581.6:c.937A>G | ENSP00000483777.2:p.Thr313Ala | |
| ENST00000648295.1:n.1149A>G | ||
| ENST00000649563.1:c.934A>G | ENSP00000496928.1:p.Thr312Ala | |
| ENST00000650281.1:c.1597A>G | ENSP00000497000.1:p.Thr533Ala | |
| ENST00000328354.10:c.1597A>G | ENSP00000329178.6:p.Thr533Ala | |
| ENST00000348295.7:c.1510A>G | ENSP00000329012.5:p.Thr504Ala | |
| ENST00000382580.6:c.1726A>G | ENSP00000372023.2:p.Thr576Ala | |
| ENST00000402731.5:c.1510A>G | ENSP00000384835.1:p.Thr504Ala | |
| ENST00000403642.5:c.1324A>G | ENSP00000384919.1:p.Thr442Ala | |
| ENST00000404276.5:c.1597A>G | ENSP00000385747.1:p.Thr533Ala | |
| ENST00000405598.5:c.1597A>G | ENSP00000386087.1:p.Thr533Ala | |
| ENST00000416671.5:c.*1087A>G | ENSP00000402225.1:n.*1087A>G | |
| ENST00000417588.5:c.1506A>G | ENSP00000412901.1:n.1506A>G | |
| ENST00000433728.5:c.1535A>G | ENSP00000404400.1:n.1535A>G | |
| ENST00000434810.5:c.795A>G | ||
| ENST00000448511.5:c.1487A>G | ENSP00000404567.1:n.1487A>G | |
| ENST00000456369.5:c.399A>G | ||
| ENST00000472807.1:n.331A>G | ||
| NM_001005735.1:c.1726A>G | NP_001005735.1:p.Thr576Ala | |
| NM_001257387.1:c.934A>G | NP_001244316.1:p.Thr312Ala | |
| NM_007194.3:c.1597A>G | NP_009125.1:p.Thr533Ala | |
| NM_145862.2:c.1510A>G | NP_665861.1:p.Thr504Ala | |
| XM_006724114.2:c.1117A>G | XP_006724177.1:p.Thr373Ala | |
| XM_006724116.2:c.1054A>G | XP_006724179.2:p.Thr352Ala | |
| XM_011529839.1:c.1756A>G | XP_011528141.1:p.Thr586Ala | |
| XM_011529840.1:c.1669A>G | XP_011528142.1:p.Thr557Ala | |
| XM_011529841.1:c.1525A>G | XP_011528143.1:p.Thr509Ala | |
| XM_011529842.1:c.1426A>G | XP_011528144.1:p.Thr476Ala | |
| XM_011529843.1:c.1396A>G | XP_011528145.1:p.Thr466Ala | |
| XM_011529845.1:c.934A>G | XP_011528147.1:p.Thr312Ala | |
| XR_937805.1:n.1756A>G | ||
| NM_001349956.1:c.1396A>G | NP_001336885.1:p.Thr466Ala | |
| NM_007194.4:c.1597A>G MANE Select | NP_009125.1:p.Thr533Ala | |
| XM_006724114.3:c.1150A>G | XP_006724177.2:p.Thr384Ala | |
| XM_011529839.2:c.1756A>G | XP_011528141.1:p.Thr586Ala | |
| XM_011529840.3:c.1669A>G | XP_011528142.1:p.Thr557Ala | |
| XM_011529842.2:c.1426A>G | XP_011528144.1:p.Thr476Ala | |
| XM_011529845.2:c.934A>G | XP_011528147.1:p.Thr312Ala | |
| XM_017028560.1:c.1720A>G | XP_016884049.1:p.Thr574Ala | |
| XM_017028561.2:c.934A>G | XP_016884050.1:p.Thr312Ala | |
| XM_024452148.1:c.1627A>G | XP_024307916.1:p.Thr543Ala | |
| XM_024452149.1:c.1540A>G | XP_024307917.1:p.Thr514Ala | |
| XR_937805.2:n.1767A>G | ||
| NM_001005735.2:c.1726A>G | NP_001005735.1:p.Thr576Ala | |
| NM_001257387.2:c.934A>G | NP_001244316.1:p.Thr312Ala | |
| NM_001349956.2:c.1396A>G | NP_001336885.1:p.Thr466Ala |