Linked Data
ClinVar Variation Id:
142917
dbSNP Id:
rs587782817
ExAC:
22:29091804 A / G
gnomAD v2:
22-29091804-A-G
gnomAD v3:
22-28695816-A-G
gnomAD v4:
22-28695816-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695816A>G , CM000684.2:g.28695816A>G | GRCh38 |
| NC_000022.10:g.29091804A>G , CM000684.1:g.29091804A>G | GRCh37 |
| NC_000022.9:g.27421804A>G | NCBI36 |
| NG_008150.1:g.51019T>C | |
| NG_008150.2:g.51051T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-574T>C | ENSP00000518557.1:n.1009-574T>C | |
| ENST00000402731.6:c.952T>C | ENSP00000384835.2:p.Cys318Arg | |
| ENST00000404276.6:c.1153T>C MANE Select | ENSP00000385747.1:p.Cys385Arg | |
| ENST00000425190.7:c.490T>C | ENSP00000390244.2:p.Cys164Arg | |
| ENST00000464581.6:c.493T>C | ENSP00000483777.2:p.Cys165Arg | |
| ENST00000648295.1:n.705T>C | ||
| ENST00000649563.1:c.490T>C | ENSP00000496928.1:p.Cys164Arg | |
| ENST00000650281.1:c.1153T>C | ENSP00000497000.1:p.Cys385Arg | |
| ENST00000328354.10:c.1153T>C | ENSP00000329178.6:p.Cys385Arg | |
| ENST00000348295.7:c.1066T>C | ENSP00000329012.5:p.Cys356Arg | |
| ENST00000382580.6:c.1282T>C | ENSP00000372023.2:p.Cys428Arg | |
| ENST00000402731.5:c.1066T>C | ENSP00000384835.1:p.Cys356Arg | |
| ENST00000403642.5:c.880T>C | ENSP00000384919.1:p.Cys294Arg | |
| ENST00000404276.5:c.1153T>C | ENSP00000385747.1:p.Cys385Arg | |
| ENST00000405598.5:c.1153T>C | ENSP00000386087.1:p.Cys385Arg | |
| ENST00000416671.5:c.*643T>C | ENSP00000402225.1:n.*643T>C | |
| ENST00000417588.5:c.1062T>C | ENSP00000412901.1:n.1062T>C | |
| ENST00000433728.5:c.1091T>C | ENSP00000404400.1:n.1091T>C | |
| ENST00000434810.5:c.384T>C | ||
| ENST00000448511.5:c.1043T>C | ENSP00000404567.1:n.1043T>C | |
| ENST00000456369.5:c.263+4022T>C | ||
| NM_001005735.1:c.1282T>C | NP_001005735.1:p.Cys428Arg | |
| NM_001257387.1:c.490T>C | NP_001244316.1:p.Cys164Arg | |
| NM_007194.3:c.1153T>C | NP_009125.1:p.Cys385Arg | |
| NM_145862.2:c.1066T>C | NP_665861.1:p.Cys356Arg | |
| XM_006724114.2:c.673T>C | XP_006724177.1:p.Cys225Arg | |
| XM_006724116.2:c.610T>C | XP_006724179.2:p.Cys204Arg | |
| XM_011529839.1:c.1312T>C | XP_011528141.1:p.Cys438Arg | |
| XM_011529840.1:c.1225T>C | XP_011528142.1:p.Cys409Arg | |
| XM_011529841.1:c.1081T>C | XP_011528143.1:p.Cys361Arg | |
| XM_011529842.1:c.982T>C | XP_011528144.1:p.Cys328Arg | |
| XM_011529843.1:c.952T>C | XP_011528145.1:p.Cys318Arg | |
| XM_011529845.1:c.490T>C | XP_011528147.1:p.Cys164Arg | |
| XR_937805.1:n.1312T>C | ||
| XR_937806.1:n.1220T>C | ||
| NM_001349956.1:c.952T>C | NP_001336885.1:p.Cys318Arg | |
| NM_007194.4:c.1153T>C MANE Select | NP_009125.1:p.Cys385Arg | |
| XM_006724114.3:c.706T>C | XP_006724177.2:p.Cys236Arg | |
| XM_011529839.2:c.1312T>C | XP_011528141.1:p.Cys438Arg | |
| XM_011529840.3:c.1225T>C | XP_011528142.1:p.Cys409Arg | |
| XM_011529842.2:c.982T>C | XP_011528144.1:p.Cys328Arg | |
| XM_011529845.2:c.490T>C | XP_011528147.1:p.Cys164Arg | |
| XM_017028560.1:c.1276T>C | XP_016884049.1:p.Cys426Arg | |
| XM_017028561.2:c.490T>C | XP_016884050.1:p.Cys164Arg | |
| XM_024452148.1:c.1183T>C | XP_024307916.1:p.Cys395Arg | |
| XM_024452149.1:c.1096T>C | XP_024307917.1:p.Cys366Arg | |
| XR_937805.2:n.1323T>C | ||
| XR_937806.2:n.1236T>C | ||
| NM_001005735.2:c.1282T>C | NP_001005735.1:p.Cys428Arg | |
| NM_001257387.2:c.490T>C | NP_001244316.1:p.Cys164Arg | |
| NM_001349956.2:c.952T>C | NP_001336885.1:p.Cys318Arg |