Linked Data
ClinVar Variation Id:
128060
ClinVar RCV Id:
RCV000116001
RCV000198554
RCV000210077
RCV000212465
RCV000259876
RCV000317389
RCV000499890
RCV000778653
RCV001357877
RCV001564016
RCV001572627
RCV001798351
RCV003389695
RCV003444200
dbSNP Id:
rs142763740
ExAC:
22:29090054 G / A
gnomAD v2:
22-29090054-G-A
gnomAD v3:
22-28694066-G-A
gnomAD v4:
22-28694066-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28694066G>A , CM000684.2:g.28694066G>A | GRCh38 |
| NC_000022.10:g.29090054G>A , CM000684.1:g.29090054G>A | GRCh37 |
| NC_000022.9:g.27420054G>A | NCBI36 |
| NG_008150.1:g.52769C>T | |
| NG_008150.2:g.52801C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711048.1:c.*162C>T | ENSP00000518557.1:n.*162C>T | |
| ENST00000402731.6:c.1226C>T | ENSP00000384835.2:p.Thr409Met | |
| ENST00000404276.6:c.1427C>T MANE Select | ENSP00000385747.1:p.Thr476Met | |
| ENST00000425190.7:c.764C>T | ENSP00000390244.2:p.Thr255Met | |
| ENST00000464581.6:c.767C>T | ENSP00000483777.2:p.Thr256Met | |
| ENST00000648295.1:n.979C>T | ||
| ENST00000649563.1:c.764C>T | ENSP00000496928.1:p.Thr255Met | |
| ENST00000650281.1:c.1427C>T | ENSP00000497000.1:p.Thr476Met | |
| ENST00000328354.10:c.1427C>T | ENSP00000329178.6:p.Thr476Met | |
| ENST00000348295.7:c.1340C>T | ENSP00000329012.5:p.Thr447Met | |
| ENST00000382580.6:c.1556C>T | ENSP00000372023.2:p.Thr519Met | |
| ENST00000402731.5:c.1340C>T | ENSP00000384835.1:p.Thr447Met | |
| ENST00000403642.5:c.1154C>T | ENSP00000384919.1:p.Thr385Met | |
| ENST00000404276.5:c.1427C>T | ENSP00000385747.1:p.Thr476Met | |
| ENST00000405598.5:c.1427C>T | ENSP00000386087.1:p.Thr476Met | |
| ENST00000416671.5:c.*917C>T | ENSP00000402225.1:n.*917C>T | |
| ENST00000417588.5:c.1336C>T | ENSP00000412901.1:n.1336C>T | |
| ENST00000433728.5:c.1365C>T | ENSP00000404400.1:n.1365C>T | |
| ENST00000434810.5:c.625C>T | ||
| ENST00000448511.5:c.1317C>T | ENSP00000404567.1:n.1317C>T | |
| ENST00000456369.5:c.264-4851C>T | ||
| NM_001005735.1:c.1556C>T | NP_001005735.1:p.Thr519Met | |
| NM_001257387.1:c.764C>T | NP_001244316.1:p.Thr255Met | |
| NM_007194.3:c.1427C>T | NP_009125.1:p.Thr476Met | |
| NM_145862.2:c.1340C>T | NP_665861.1:p.Thr447Met | |
| XM_006724114.2:c.947C>T | XP_006724177.1:p.Thr316Met | |
| XM_006724116.2:c.884C>T | XP_006724179.2:p.Thr295Met | |
| XM_011529839.1:c.1586C>T | XP_011528141.1:p.Thr529Met | |
| XM_011529840.1:c.1499C>T | XP_011528142.1:p.Thr500Met | |
| XM_011529841.1:c.1355C>T | XP_011528143.1:p.Thr452Met | |
| XM_011529842.1:c.1256C>T | XP_011528144.1:p.Thr419Met | |
| XM_011529843.1:c.1226C>T | XP_011528145.1:p.Thr409Met | |
| XM_011529845.1:c.764C>T | XP_011528147.1:p.Thr255Met | |
| XR_937805.1:n.1586C>T | ||
| NM_001349956.1:c.1226C>T | NP_001336885.1:p.Thr409Met | |
| NM_007194.4:c.1427C>T MANE Select | NP_009125.1:p.Thr476Met | |
| XM_006724114.3:c.980C>T | XP_006724177.2:p.Thr327Met | |
| XM_011529839.2:c.1586C>T | XP_011528141.1:p.Thr529Met | |
| XM_011529840.3:c.1499C>T | XP_011528142.1:p.Thr500Met | |
| XM_011529842.2:c.1256C>T | XP_011528144.1:p.Thr419Met | |
| XM_011529845.2:c.764C>T | XP_011528147.1:p.Thr255Met | |
| XM_017028560.1:c.1550C>T | XP_016884049.1:p.Thr517Met | |
| XM_017028561.2:c.764C>T | XP_016884050.1:p.Thr255Met | |
| XM_024452148.1:c.1457C>T | XP_024307916.1:p.Thr486Met | |
| XM_024452149.1:c.1370C>T | XP_024307917.1:p.Thr457Met | |
| XR_937805.2:n.1597C>T | ||
| NM_001005735.2:c.1556C>T | NP_001005735.1:p.Thr519Met | |
| NM_001257387.2:c.764C>T | NP_001244316.1:p.Thr255Met | |
| NM_001349956.2:c.1226C>T | NP_001336885.1:p.Thr409Met |