Linked Data
ClinVar Variation Id:
128081
ClinVar RCV Id:
RCV000116024
RCV000212426
RCV000196561
RCV000588124
RCV001149530
RCV000490304
RCV001798358
RCV001030689
RCV004529943
dbSNP Id:
rs77130927
ExAC:
22:29121019 G / A
gnomAD v2:
22-29121019-G-A
gnomAD v3:
22-28725031-G-A
gnomAD v4:
22-28725031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28725031G>A , CM000684.2:g.28725031G>A | GRCh38 |
| NC_000022.10:g.29121019G>A , CM000684.1:g.29121019G>A | GRCh37 |
| NC_000022.9:g.27451019G>A | NCBI36 |
| NG_008150.1:g.21804C>T | |
| NG_008150.2:g.21836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.538C>T | ENSP00000396903.2:p.Arg180Cys | |
| ENST00000454252.2:c.*518C>T | ENSP00000387451.2:n.*518C>T | |
| ENST00000711048.1:c.538C>T | ENSP00000518557.1:p.Arg180Cys | |
| ENST00000402731.6:c.445-108C>T | ENSP00000384835.2:n.445-108C>T | |
| ENST00000404276.6:c.538C>T MANE Select | ENSP00000385747.1:p.Arg180Cys | |
| ENST00000425190.7:c.-126C>T | ENSP00000390244.2:n.-126C>T | |
| ENST00000649563.1:c.-71-5546C>T | ENSP00000496928.1:n.-71-5546C>T | |
| ENST00000650281.1:c.538C>T | ENSP00000497000.1:p.Arg180Cys | |
| ENST00000328354.10:c.538C>T | ENSP00000329178.6:p.Arg180Cys | |
| ENST00000348295.7:c.538C>T | ENSP00000329012.5:p.Arg180Cys | |
| ENST00000382565.5:c.538C>T | ENSP00000372006.2:p.Arg180Cys | |
| ENST00000382580.6:c.667C>T | ENSP00000372023.2:p.Arg223Cys | |
| ENST00000402731.5:c.538C>T | ENSP00000384835.1:p.Arg180Cys | |
| ENST00000403642.5:c.320-5546C>T | ENSP00000384919.1:n.320-5546C>T | |
| ENST00000404276.5:c.538C>T | ENSP00000385747.1:p.Arg180Cys | |
| ENST00000405598.5:c.538C>T | ENSP00000386087.1:p.Arg180Cys | |
| ENST00000416671.5:c.538C>T | ENSP00000402225.1:p.Arg180Cys | |
| ENST00000417588.5:c.538C>T | ENSP00000412901.1:p.Arg180Cys | |
| ENST00000425190.6:c.-126C>T | ENSP00000390244.1:n.-126C>T | |
| ENST00000433028.6:c.445-108C>T | ENSP00000403659.1:n.445-108C>T | |
| ENST00000433728.5:c.538C>T | ENSP00000404400.1:p.Arg180Cys | |
| ENST00000439200.5:c.631C>T | ENSP00000408065.1:p.Arg211Cys | |
| ENST00000439346.5:c.100C>T | ENSP00000396903.1:p.Arg34Cys | |
| ENST00000447421.5:c.445-108C>T | ENSP00000397478.2:n.445-108C>T | |
| ENST00000448511.5:c.445-108C>T | ENSP00000404567.1:n.445-108C>T | |
| ENST00000454252.1:c.656C>T | ENSP00000387451.1:n.656C>T | |
| NM_001005735.1:c.667C>T | NP_001005735.1:p.Arg223Cys | |
| NM_001257387.1:c.-240C>T | NP_001244316.1:n.-240C>T | |
| NM_007194.3:c.538C>T | NP_009125.1:p.Arg180Cys | |
| NM_145862.2:c.538C>T | NP_665861.1:p.Arg180Cys | |
| XM_011529839.1:c.697C>T | XP_011528141.1:p.Arg233Cys | |
| XM_011529840.1:c.697C>T | XP_011528142.1:p.Arg233Cys | |
| XM_011529841.1:c.574-108C>T | XP_011528143.1:n.574-108C>T | |
| XM_011529842.1:c.475-108C>T | XP_011528144.1:n.475-108C>T | |
| XM_011529843.1:c.445-108C>T | XP_011528145.1:n.445-108C>T | |
| XM_011529844.1:c.697C>T | XP_011528146.1:p.Arg233Cys | |
| XM_011529845.1:c.-126C>T | XP_011528147.1:n.-126C>T | |
| XR_937805.1:n.759C>T | ||
| XR_937806.1:n.754C>T | ||
| XR_937807.1:n.754C>T | ||
| NM_001349956.1:c.445-108C>T | NP_001336885.1:n.445-108C>T | |
| NM_007194.4:c.538C>T MANE Select | NP_009125.1:p.Arg180Cys | |
| XM_011529839.2:c.697C>T | XP_011528141.1:p.Arg233Cys | |
| XM_011529840.3:c.697C>T | XP_011528142.1:p.Arg233Cys | |
| XM_011529842.2:c.475-108C>T | XP_011528144.1:n.475-108C>T | |
| XM_011529844.2:c.697C>T | XP_011528146.1:p.Arg233Cys | |
| XM_011529845.2:c.-126C>T | XP_011528147.1:n.-126C>T | |
| XM_017028560.1:c.661C>T | XP_016884049.1:p.Arg221Cys | |
| XM_024452148.1:c.568C>T | XP_024307916.1:p.Arg190Cys | |
| XM_024452149.1:c.568C>T | XP_024307917.1:p.Arg190Cys | |
| XR_937805.2:n.770C>T | ||
| XR_937806.2:n.770C>T | ||
| XR_937807.2:n.770C>T | ||
| NM_001005735.2:c.667C>T | NP_001005735.1:p.Arg223Cys | |
| NM_001257387.2:c.-240C>T | NP_001244316.1:n.-240C>T | |
| NM_001349956.2:c.445-108C>T | NP_001336885.1:n.445-108C>T |