ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016599 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00017291 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28711974A>G , CM000684.2:g.28711974A>G | GRCh38 |
| NC_000022.10:g.29107962A>G , CM000684.1:g.29107962A>G | GRCh37 |
| NC_000022.9:g.27437962A>G | NCBI36 |
| NG_008150.1:g.34861T>C | |
| NG_008150.2:g.34893T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.636T>C | ENSP00000396903.2:n.636T>C | |
| ENST00000711048.1:c.727T>C | ENSP00000518557.1:p.Cys243Arg | |
| ENST00000402731.6:c.526T>C | ENSP00000384835.2:p.Cys176Arg | |
| ENST00000404276.6:c.727T>C MANE Select | ENSP00000385747.1:p.Cys243Arg | |
| ENST00000425190.7:c.64T>C | ENSP00000390244.2:p.Cys22Arg | |
| ENST00000464581.6:c.67T>C | ENSP00000483777.2:p.Cys23Arg | |
| ENST00000648295.1:n.279T>C | ||
| ENST00000649563.1:c.64T>C | ENSP00000496928.1:p.Cys22Arg | |
| ENST00000650281.1:c.727T>C | ENSP00000497000.1:p.Cys243Arg | |
| ENST00000328354.10:c.727T>C | ENSP00000329178.6:p.Cys243Arg | |
| ENST00000348295.7:c.727T>C | ENSP00000329012.5:p.Cys243Arg | |
| ENST00000382580.6:c.856T>C | ENSP00000372023.2:p.Cys286Arg | |
| ENST00000402731.5:c.727T>C | ENSP00000384835.1:p.Cys243Arg | |
| ENST00000403642.5:c.454T>C | ENSP00000384919.1:p.Cys152Arg | |
| ENST00000404276.5:c.727T>C | ENSP00000385747.1:p.Cys243Arg | |
| ENST00000405598.5:c.727T>C | ENSP00000386087.1:p.Cys243Arg | |
| ENST00000416671.5:c.*217T>C | ENSP00000402225.1:n.*217T>C | |
| ENST00000417588.5:c.636T>C | ENSP00000412901.1:n.636T>C | |
| ENST00000425190.6:c.64T>C | ENSP00000390244.1:p.Cys22Arg | |
| ENST00000433028.6:c.*452T>C | ENSP00000403659.1:n.*452T>C | |
| ENST00000433728.5:c.727T>C | ENSP00000404400.1:p.Cys243Arg | |
| ENST00000439200.5:c.820T>C | ENSP00000408065.1:p.Cys274Arg | |
| ENST00000439346.5:c.198T>C | ENSP00000396903.1:n.198T>C | |
| ENST00000447421.5:c.526T>C | ENSP00000397478.2:p.Cys176Arg | |
| ENST00000448511.5:c.617T>C | ENSP00000404567.1:n.617T>C | |
| ENST00000464581.5:c.67T>C | ENSP00000483777.1:p.Cys23Arg | |
| ENST00000491919.5:n.284T>C | ||
| NM_001005735.1:c.856T>C | NP_001005735.1:p.Cys286Arg | |
| NM_001257387.1:c.64T>C | NP_001244316.1:p.Cys22Arg | |
| NM_007194.3:c.727T>C | NP_009125.1:p.Cys243Arg | |
| NM_145862.2:c.727T>C | NP_665861.1:p.Cys243Arg | |
| XM_006724114.2:c.247T>C | XP_006724177.1:p.Cys83Arg | |
| XM_006724116.2:c.184T>C | XP_006724179.2:p.Cys62Arg | |
| XM_011529839.1:c.886T>C | XP_011528141.1:p.Cys296Arg | |
| XM_011529840.1:c.886T>C | XP_011528142.1:p.Cys296Arg | |
| XM_011529841.1:c.655T>C | XP_011528143.1:p.Cys219Arg | |
| XM_011529842.1:c.556T>C | XP_011528144.1:p.Cys186Arg | |
| XM_011529843.1:c.526T>C | XP_011528145.1:p.Cys176Arg | |
| XM_011529844.1:c.886T>C | XP_011528146.1:p.Cys296Arg | |
| XM_011529845.1:c.64T>C | XP_011528147.1:p.Cys22Arg | |
| XR_937805.1:n.948T>C | ||
| XR_937806.1:n.943T>C | ||
| XR_937807.1:n.943T>C | ||
| NM_001349956.1:c.526T>C | NP_001336885.1:p.Cys176Arg | |
| NM_007194.4:c.727T>C MANE Select | NP_009125.1:p.Cys243Arg | |
| XM_006724114.3:c.280T>C | XP_006724177.2:p.Cys94Arg | |
| XM_011529839.2:c.886T>C | XP_011528141.1:p.Cys296Arg | |
| XM_011529840.3:c.886T>C | XP_011528142.1:p.Cys296Arg | |
| XM_011529842.2:c.556T>C | XP_011528144.1:p.Cys186Arg | |
| XM_011529844.2:c.886T>C | XP_011528146.1:p.Cys296Arg | |
| XM_011529845.2:c.64T>C | XP_011528147.1:p.Cys22Arg | |
| XM_017028560.1:c.850T>C | XP_016884049.1:p.Cys284Arg | |
| XM_017028561.2:c.64T>C | XP_016884050.1:p.Cys22Arg | |
| XM_024452148.1:c.757T>C | XP_024307916.1:p.Cys253Arg | |
| XM_024452149.1:c.757T>C | XP_024307917.1:p.Cys253Arg | |
| XR_937805.2:n.959T>C | ||
| XR_937806.2:n.959T>C | ||
| XR_937807.2:n.959T>C | ||
| NM_001005735.2:c.856T>C | NP_001005735.1:p.Cys286Arg | |
| NM_001257387.2:c.64T>C | NP_001244316.1:p.Cys22Arg | |
| NM_001349956.2:c.526T>C | NP_001336885.1:p.Cys176Arg |