Linked Data
ClinVar Variation Id:
142479
dbSNP Id:
rs587782489
ExAC:
22:29085155 C / G
gnomAD v2:
22-29085155-C-G
gnomAD v3:
22-28689167-C-G
gnomAD v4:
22-28689167-C-G
PubMed:
PMID:25318351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28689167C>G , CM000684.2:g.28689167C>G | GRCh38 |
| NC_000022.10:g.29085155C>G , CM000684.1:g.29085155C>G | GRCh37 |
| NC_000022.9:g.27415155C>G | NCBI36 |
| NG_008150.1:g.57668G>C | |
| NG_008150.2:g.57700G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*245G>C | ENSP00000518557.1:n.*245G>C | |
| ENST00000402731.6:c.1309G>C | ENSP00000384835.2:p.Glu437Gln | |
| ENST00000404276.6:c.1510G>C MANE Select | ENSP00000385747.1:p.Glu504Gln | |
| ENST00000425190.7:c.847G>C | ENSP00000390244.2:p.Glu283Gln | |
| ENST00000464581.6:c.850G>C | ENSP00000483777.2:p.Glu284Gln | |
| ENST00000648295.1:n.1062G>C | ||
| ENST00000649563.1:c.847G>C | ENSP00000496928.1:p.Glu283Gln | |
| ENST00000650281.1:c.1510G>C | ENSP00000497000.1:p.Glu504Gln | |
| ENST00000328354.10:c.1510G>C | ENSP00000329178.6:p.Glu504Gln | |
| ENST00000348295.7:c.1423G>C | ENSP00000329012.5:p.Glu475Gln | |
| ENST00000382580.6:c.1639G>C | ENSP00000372023.2:p.Glu547Gln | |
| ENST00000402731.5:c.1423G>C | ENSP00000384835.1:p.Glu475Gln | |
| ENST00000403642.5:c.1237G>C | ENSP00000384919.1:p.Glu413Gln | |
| ENST00000404276.5:c.1510G>C | ENSP00000385747.1:p.Glu504Gln | |
| ENST00000405598.5:c.1510G>C | ENSP00000386087.1:p.Glu504Gln | |
| ENST00000416671.5:c.*1000G>C | ENSP00000402225.1:n.*1000G>C | |
| ENST00000417588.5:c.1419G>C | ENSP00000412901.1:n.1419G>C | |
| ENST00000433728.5:c.1448G>C | ENSP00000404400.1:n.1448G>C | |
| ENST00000434810.5:c.708G>C | ||
| ENST00000448511.5:c.1400G>C | ENSP00000404567.1:n.1400G>C | |
| ENST00000456369.5:c.312G>C | ||
| ENST00000472807.1:n.244G>C | ||
| NM_001005735.1:c.1639G>C | NP_001005735.1:p.Glu547Gln | |
| NM_001257387.1:c.847G>C | NP_001244316.1:p.Glu283Gln | |
| NM_007194.3:c.1510G>C | NP_009125.1:p.Glu504Gln | |
| NM_145862.2:c.1423G>C | NP_665861.1:p.Glu475Gln | |
| XM_006724114.2:c.1030G>C | XP_006724177.1:p.Glu344Gln | |
| XM_006724116.2:c.967G>C | XP_006724179.2:p.Glu323Gln | |
| XM_011529839.1:c.1669G>C | XP_011528141.1:p.Glu557Gln | |
| XM_011529840.1:c.1582G>C | XP_011528142.1:p.Glu528Gln | |
| XM_011529841.1:c.1438G>C | XP_011528143.1:p.Glu480Gln | |
| XM_011529842.1:c.1339G>C | XP_011528144.1:p.Glu447Gln | |
| XM_011529843.1:c.1309G>C | XP_011528145.1:p.Glu437Gln | |
| XM_011529845.1:c.847G>C | XP_011528147.1:p.Glu283Gln | |
| XR_937805.1:n.1669G>C | ||
| NM_001349956.1:c.1309G>C | NP_001336885.1:p.Glu437Gln | |
| NM_007194.4:c.1510G>C MANE Select | NP_009125.1:p.Glu504Gln | |
| XM_006724114.3:c.1063G>C | XP_006724177.2:p.Glu355Gln | |
| XM_011529839.2:c.1669G>C | XP_011528141.1:p.Glu557Gln | |
| XM_011529840.3:c.1582G>C | XP_011528142.1:p.Glu528Gln | |
| XM_011529842.2:c.1339G>C | XP_011528144.1:p.Glu447Gln | |
| XM_011529845.2:c.847G>C | XP_011528147.1:p.Glu283Gln | |
| XM_017028560.1:c.1633G>C | XP_016884049.1:p.Glu545Gln | |
| XM_017028561.2:c.847G>C | XP_016884050.1:p.Glu283Gln | |
| XM_024452148.1:c.1540G>C | XP_024307916.1:p.Glu514Gln | |
| XM_024452149.1:c.1453G>C | XP_024307917.1:p.Glu485Gln | |
| XR_937805.2:n.1680G>C | ||
| NM_001005735.2:c.1639G>C | NP_001005735.1:p.Glu547Gln | |
| NM_001257387.2:c.847G>C | NP_001244316.1:p.Glu283Gln | |
| NM_001349956.2:c.1309G>C | NP_001336885.1:p.Glu437Gln |