Linked Data
ClinVar Variation Id:
128087
ClinVar RCV Id:
RCV000116031
RCV000212438
RCV000464095
RCV000780183
RCV001357959
RCV002477286
RCV004529944
dbSNP Id:
rs587780190
ExAC:
22:29099495 T / G
gnomAD v2:
22-29099495-T-G
gnomAD v3:
22-28703507-T-G
gnomAD v4:
22-28703507-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28703507T>G , CM000684.2:g.28703507T>G | GRCh38 |
| NC_000022.10:g.29099495T>G , CM000684.1:g.29099495T>G | GRCh37 |
| NC_000022.9:g.27429495T>G | NCBI36 |
| NG_008150.1:g.43328A>C | |
| NG_008150.2:g.43360A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.815A>C | ENSP00000396903.2:n.815A>C | |
| ENST00000711048.1:c.906A>C | ENSP00000518557.1:p.Glu302Asp | |
| ENST00000402731.6:c.705A>C | ENSP00000384835.2:p.Glu235Asp | |
| ENST00000404276.6:c.906A>C MANE Select | ENSP00000385747.1:p.Glu302Asp | |
| ENST00000425190.7:c.243A>C | ENSP00000390244.2:p.Glu81Asp | |
| ENST00000464581.6:c.246A>C | ENSP00000483777.2:p.Glu82Asp | |
| ENST00000648295.1:n.458A>C | ||
| ENST00000649563.1:c.243A>C | ENSP00000496928.1:p.Glu81Asp | |
| ENST00000650281.1:c.906A>C | ENSP00000497000.1:p.Glu302Asp | |
| ENST00000328354.10:c.906A>C | ENSP00000329178.6:p.Glu302Asp | |
| ENST00000348295.7:c.906A>C | ENSP00000329012.5:p.Glu302Asp | |
| ENST00000382580.6:c.1035A>C | ENSP00000372023.2:p.Glu345Asp | |
| ENST00000402731.5:c.906A>C | ENSP00000384835.1:p.Glu302Asp | |
| ENST00000403642.5:c.633A>C | ENSP00000384919.1:p.Glu211Asp | |
| ENST00000404276.5:c.906A>C | ENSP00000385747.1:p.Glu302Asp | |
| ENST00000405598.5:c.906A>C | ENSP00000386087.1:p.Glu302Asp | |
| ENST00000416671.5:c.*396A>C | ENSP00000402225.1:n.*396A>C | |
| ENST00000417588.5:c.815A>C | ENSP00000412901.1:n.815A>C | |
| ENST00000425190.6:c.243A>C | ENSP00000390244.1:p.Glu81Asp | |
| ENST00000433028.6:c.*631A>C | ENSP00000403659.1:n.*631A>C | |
| ENST00000433728.5:c.847-3570A>C | ENSP00000404400.1:n.847-3570A>C | |
| ENST00000434810.5:c.137A>C | ||
| ENST00000439346.5:c.377A>C | ENSP00000396903.1:n.377A>C | |
| ENST00000447421.5:c.705A>C | ENSP00000397478.2:p.Glu235Asp | |
| ENST00000448511.5:c.796A>C | ENSP00000404567.1:n.796A>C | |
| ENST00000456369.5:c.161A>C | ||
| ENST00000464581.5:c.246A>C | ENSP00000483777.1:p.Glu82Asp | |
| ENST00000491919.5:n.463A>C | ||
| NM_001005735.1:c.1035A>C | NP_001005735.1:p.Glu345Asp | |
| NM_001257387.1:c.243A>C | NP_001244316.1:p.Glu81Asp | |
| NM_007194.3:c.906A>C | NP_009125.1:p.Glu302Asp | |
| NM_145862.2:c.906A>C | NP_665861.1:p.Glu302Asp | |
| XM_006724114.2:c.426A>C | XP_006724177.1:p.Glu142Asp | |
| XM_006724116.2:c.363A>C | XP_006724179.2:p.Glu121Asp | |
| XM_011529839.1:c.1065A>C | XP_011528141.1:p.Glu355Asp | |
| XM_011529840.1:c.1065A>C | XP_011528142.1:p.Glu355Asp | |
| XM_011529841.1:c.834A>C | XP_011528143.1:p.Glu278Asp | |
| XM_011529842.1:c.735A>C | XP_011528144.1:p.Glu245Asp | |
| XM_011529843.1:c.705A>C | XP_011528145.1:p.Glu235Asp | |
| XM_011529844.1:c.1065A>C | XP_011528146.1:p.Glu355Asp | |
| XM_011529845.1:c.243A>C | XP_011528147.1:p.Glu81Asp | |
| XR_937805.1:n.1068-3570A>C | ||
| XR_937806.1:n.1063-3570A>C | ||
| XR_937807.1:n.1063-3570A>C | ||
| NM_001349956.1:c.705A>C | NP_001336885.1:p.Glu235Asp | |
| NM_007194.4:c.906A>C MANE Select | NP_009125.1:p.Glu302Asp | |
| XM_006724114.3:c.459A>C | XP_006724177.2:p.Glu153Asp | |
| XM_011529839.2:c.1065A>C | XP_011528141.1:p.Glu355Asp | |
| XM_011529840.3:c.1065A>C | XP_011528142.1:p.Glu355Asp | |
| XM_011529842.2:c.735A>C | XP_011528144.1:p.Glu245Asp | |
| XM_011529844.2:c.1065A>C | XP_011528146.1:p.Glu355Asp | |
| XM_011529845.2:c.243A>C | XP_011528147.1:p.Glu81Asp | |
| XM_017028560.1:c.1029A>C | XP_016884049.1:p.Glu343Asp | |
| XM_017028561.2:c.243A>C | XP_016884050.1:p.Glu81Asp | |
| XM_024452148.1:c.936A>C | XP_024307916.1:p.Glu312Asp | |
| XM_024452149.1:c.936A>C | XP_024307917.1:p.Glu312Asp | |
| XR_937805.2:n.1079-3570A>C | ||
| XR_937806.2:n.1079-3570A>C | ||
| XR_937807.2:n.1079-3570A>C | ||
| NM_001005735.2:c.1035A>C | NP_001005735.1:p.Glu345Asp | |
| NM_001257387.2:c.243A>C | NP_001244316.1:p.Glu81Asp | |
| NM_001349956.2:c.705A>C | NP_001336885.1:p.Glu235Asp |