Linked Data
ClinVar Variation Id:
142533
ClinVar RCV Id:
RCV000131715
RCV000228975
RCV000587346
RCV000515410
RCV000855593
RCV001356488
RCV003492628
RCV004532574
dbSNP Id:
rs587782527
ExAC:
22:29091741 G / A
gnomAD v2:
22-29091741-G-A
gnomAD v3:
22-28695753-G-A
gnomAD v4:
22-28695753-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695753G>A , CM000684.2:g.28695753G>A | GRCh38 |
| NC_000022.10:g.29091741G>A , CM000684.1:g.29091741G>A | GRCh37 |
| NC_000022.9:g.27421741G>A | NCBI36 |
| NG_008150.1:g.51082C>T | |
| NG_008150.2:g.51114C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-511C>T | ENSP00000518557.1:n.1009-511C>T | |
| ENST00000402731.6:c.1015C>T | ENSP00000384835.2:p.Arg339Cys | |
| ENST00000404276.6:c.1216C>T MANE Select | ENSP00000385747.1:p.Arg406Cys | |
| ENST00000425190.7:c.553C>T | ENSP00000390244.2:p.Arg185Cys | |
| ENST00000464581.6:c.556C>T | ENSP00000483777.2:p.Arg186Cys | |
| ENST00000648295.1:n.768C>T | ||
| ENST00000649563.1:c.553C>T | ENSP00000496928.1:p.Arg185Cys | |
| ENST00000650281.1:c.1216C>T | ENSP00000497000.1:p.Arg406Cys | |
| ENST00000328354.10:c.1216C>T | ENSP00000329178.6:p.Arg406Cys | |
| ENST00000348295.7:c.1129C>T | ENSP00000329012.5:p.Arg377Cys | |
| ENST00000382580.6:c.1345C>T | ENSP00000372023.2:p.Arg449Cys | |
| ENST00000402731.5:c.1129C>T | ENSP00000384835.1:p.Arg377Cys | |
| ENST00000403642.5:c.943C>T | ENSP00000384919.1:p.Arg315Cys | |
| ENST00000404276.5:c.1216C>T | ENSP00000385747.1:p.Arg406Cys | |
| ENST00000405598.5:c.1216C>T | ENSP00000386087.1:p.Arg406Cys | |
| ENST00000416671.5:c.*706C>T | ENSP00000402225.1:n.*706C>T | |
| ENST00000417588.5:c.1125C>T | ENSP00000412901.1:n.1125C>T | |
| ENST00000433728.5:c.1154C>T | ENSP00000404400.1:n.1154C>T | |
| ENST00000434810.5:c.447C>T | ||
| ENST00000448511.5:c.1106C>T | ENSP00000404567.1:n.1106C>T | |
| ENST00000456369.5:c.263+4085C>T | ||
| NM_001005735.1:c.1345C>T | NP_001005735.1:p.Arg449Cys | |
| NM_001257387.1:c.553C>T | NP_001244316.1:p.Arg185Cys | |
| NM_007194.3:c.1216C>T | NP_009125.1:p.Arg406Cys | |
| NM_145862.2:c.1129C>T | NP_665861.1:p.Arg377Cys | |
| XM_006724114.2:c.736C>T | XP_006724177.1:p.Arg246Cys | |
| XM_006724116.2:c.673C>T | XP_006724179.2:p.Arg225Cys | |
| XM_011529839.1:c.1375C>T | XP_011528141.1:p.Arg459Cys | |
| XM_011529840.1:c.1288C>T | XP_011528142.1:p.Arg430Cys | |
| XM_011529841.1:c.1144C>T | XP_011528143.1:p.Arg382Cys | |
| XM_011529842.1:c.1045C>T | XP_011528144.1:p.Arg349Cys | |
| XM_011529843.1:c.1015C>T | XP_011528145.1:p.Arg339Cys | |
| XM_011529845.1:c.553C>T | XP_011528147.1:p.Arg185Cys | |
| XR_937805.1:n.1375C>T | ||
| NM_001349956.1:c.1015C>T | NP_001336885.1:p.Arg339Cys | |
| NM_007194.4:c.1216C>T MANE Select | NP_009125.1:p.Arg406Cys | |
| XM_006724114.3:c.769C>T | XP_006724177.2:p.Arg257Cys | |
| XM_011529839.2:c.1375C>T | XP_011528141.1:p.Arg459Cys | |
| XM_011529840.3:c.1288C>T | XP_011528142.1:p.Arg430Cys | |
| XM_011529842.2:c.1045C>T | XP_011528144.1:p.Arg349Cys | |
| XM_011529845.2:c.553C>T | XP_011528147.1:p.Arg185Cys | |
| XM_017028560.1:c.1339C>T | XP_016884049.1:p.Arg447Cys | |
| XM_017028561.2:c.553C>T | XP_016884050.1:p.Arg185Cys | |
| XM_024452148.1:c.1246C>T | XP_024307916.1:p.Arg416Cys | |
| XM_024452149.1:c.1159C>T | XP_024307917.1:p.Arg387Cys | |
| XR_937805.2:n.1386C>T | ||
| NM_001005735.2:c.1345C>T | NP_001005735.1:p.Arg449Cys | |
| NM_001257387.2:c.553C>T | NP_001244316.1:p.Arg185Cys | |
| NM_001349956.2:c.1015C>T | NP_001336885.1:p.Arg339Cys |