Linked Data
ClinVar Variation Id:
241
ClinVar RCV Id:
RCV000000265
dbSNP Id:
rs121965011
ExAC:
22:43023333 A / G
gnomAD v2:
22-43023333-A-G
gnomAD v4:
22-42627327-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42627327A>G , CM000684.2:g.42627327A>G | GRCh38 |
| NC_000022.10:g.43023333A>G , CM000684.1:g.43023333A>G | GRCh37 |
| NC_000022.9:g.41353277A>G | NCBI36 |
| NG_012194.1:g.27073T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361740.9:c.742T>C | ENSP00000354468.5:p.Cys248Arg | |
| ENST00000402438.6:c.541T>C | ENSP00000385679.1:p.Cys181Arg | |
| ENST00000407332.6:c.628T>C | ENSP00000384457.2:p.Cys210Arg | |
| ENST00000407623.8:c.541T>C | ENSP00000384834.3:p.Cys181Arg | |
| ENST00000617178.5:c.147T>C | ||
| ENST00000684963.1:n.2350T>C | ||
| ENST00000686523.1:c.*559T>C | ENSP00000508940.1:n.*559T>C | |
| ENST00000687183.1:n.886T>C | ||
| ENST00000687198.1:c.541T>C | ENSP00000508492.1:p.Cys181Arg | |
| ENST00000688117.1:c.709T>C | ENSP00000509015.1:p.Cys237Arg | |
| ENST00000688244.1:c.334-3439T>C | ENSP00000510355.1:n.334-3439T>C | |
| ENST00000689001.1:n.1232T>C | ||
| ENST00000689195.1:c.526T>C | ENSP00000509895.1:p.Cys176Arg | |
| ENST00000689239.1:n.777T>C | ||
| ENST00000689795.1:n.772T>C | ||
| ENST00000690835.1:c.610T>C | ENSP00000509038.1:p.Cys204Arg | |
| ENST00000690993.1:n.1365T>C | ||
| ENST00000691295.1:c.*93T>C | ENSP00000508706.1:n.*93T>C | |
| ENST00000691918.1:c.589T>C | ENSP00000509525.1:p.Cys197Arg | |
| ENST00000692152.1:c.541T>C | ENSP00000509317.1:p.Cys181Arg | |
| ENST00000692344.1:n.1097T>C | ||
| ENST00000693363.1:c.652T>C | ENSP00000510411.1:p.Cys218Arg | |
| ENST00000693367.1:c.610T>C | ENSP00000508815.1:p.Cys204Arg | |
| ENST00000693639.1:c.603T>C | ENSP00000510223.1:n.603T>C | |
| ENST00000693646.1:c.516T>C | ENSP00000508449.1:n.516T>C | |
| ENST00000352397.10:c.610T>C MANE Select | ENSP00000338461.6:p.Cys204Arg | |
| ENST00000352397.9:c.610T>C | ENSP00000338461.6:p.Cys204Arg | |
| ENST00000361740.8:c.709T>C | ENSP00000354468.4:p.Cys237Arg | |
| ENST00000402438.5:c.541T>C | ENSP00000385679.1:p.Cys181Arg | |
| ENST00000407332.5:c.541T>C | ENSP00000384457.1:p.Cys181Arg | |
| ENST00000407623.7:c.541T>C | ENSP00000384834.3:p.Cys181Arg | |
| ENST00000470741.1:n.2744T>C | ||
| NM_000398.6:c.610T>C | NP_000389.1:p.Cys204Arg | |
| NM_001129819.2:c.541T>C | NP_001123291.1:p.Cys181Arg | |
| NM_001171660.1:c.709T>C | NP_001165131.1:p.Cys237Arg | |
| NM_001171661.1:c.541T>C | NP_001165132.1:p.Cys181Arg | |
| NM_007326.4:c.541T>C | NP_015565.1:p.Cys181Arg | |
| NM_000398.7:c.610T>C MANE Select | NP_000389.1:p.Cys204Arg | |
| NM_001171660.2:c.709T>C | NP_001165131.1:p.Cys237Arg |