Linked Data
ClinVar Variation Id:
827634
ClinVar RCV Id:
RCV001027444
dbSNP Id:
rs1299251737
gnomAD v2:
22-43026911-C-A
gnomAD v4:
22-42630905-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42630905C>A , CM000684.2:g.42630905C>A | GRCh38 |
| NC_000022.10:g.43026911C>A , CM000684.1:g.43026911C>A | GRCh37 |
| NC_000022.9:g.41356855C>A | NCBI36 |
| NG_012194.1:g.23495G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361740.9:c.310G>T | ENSP00000354468.5:p.Gly104Cys | |
| ENST00000402438.6:c.241G>T | ENSP00000385679.1:p.Gly81Cys | |
| ENST00000407332.6:c.328G>T | ENSP00000384457.2:p.Gly110Cys | |
| ENST00000407623.8:c.241G>T | ENSP00000384834.3:p.Gly81Cys | |
| ENST00000438270.2:c.241G>T | ENSP00000403439.2:p.Gly81Cys | |
| ENST00000466276.2:n.377G>T | ||
| ENST00000686129.1:c.241G>T | ENSP00000508623.1:p.Gly81Cys | |
| ENST00000686523.1:c.*259G>T | ENSP00000508940.1:n.*259G>T | |
| ENST00000687183.1:n.371G>T | ||
| ENST00000687198.1:c.241G>T | ENSP00000508492.1:p.Gly81Cys | |
| ENST00000688117.1:c.409G>T | ENSP00000509015.1:p.Gly137Cys | |
| ENST00000688244.1:c.310G>T | ENSP00000510355.1:p.Gly104Cys | |
| ENST00000689001.1:n.717G>T | ||
| ENST00000689195.1:c.310G>T | ENSP00000509895.1:p.Gly104Cys | |
| ENST00000689239.1:n.477G>T | ||
| ENST00000689795.1:n.472G>T | ||
| ENST00000690835.1:c.310G>T | ENSP00000509038.1:p.Gly104Cys | |
| ENST00000690993.1:n.387G>T | ||
| ENST00000691295.1:c.310G>T | ENSP00000508706.1:p.Gly104Cys | |
| ENST00000691918.1:c.289G>T | ENSP00000509525.1:p.Gly97Cys | |
| ENST00000692152.1:c.241G>T | ENSP00000509317.1:p.Gly81Cys | |
| ENST00000692344.1:n.334G>T | ||
| ENST00000693157.1:c.230G>T | ENSP00000510610.1:n.230G>T | |
| ENST00000693363.1:c.310G>T | ENSP00000510411.1:p.Gly104Cys | |
| ENST00000693367.1:c.310G>T | ENSP00000508815.1:p.Gly104Cys | |
| ENST00000693639.1:c.303G>T | ENSP00000510223.1:p.Arg101Ser | |
| ENST00000693646.1:c.216G>T | ENSP00000508449.1:p.Arg72Ser | |
| ENST00000693716.1:n.538G>T | ||
| ENST00000352397.10:c.310G>T MANE Select | ENSP00000338461.6:p.Gly104Cys | |
| ENST00000352397.9:c.310G>T | ENSP00000338461.6:p.Gly104Cys | |
| ENST00000361740.8:c.409G>T | ENSP00000354468.4:p.Gly137Cys | |
| ENST00000402438.5:c.241G>T | ENSP00000385679.1:p.Gly81Cys | |
| ENST00000407332.5:c.241G>T | ENSP00000384457.1:p.Gly81Cys | |
| ENST00000407623.7:c.241G>T | ENSP00000384834.3:p.Gly81Cys | |
| ENST00000438270.1:c.241G>T | ENSP00000403439.1:p.Gly81Cys | |
| ENST00000470741.1:n.2444G>T | ||
| NM_000398.6:c.310G>T | NP_000389.1:p.Gly104Cys | |
| NM_001129819.2:c.241G>T | NP_001123291.1:p.Gly81Cys | |
| NM_001171660.1:c.409G>T | NP_001165131.1:p.Gly137Cys | |
| NM_001171661.1:c.241G>T | NP_001165132.1:p.Gly81Cys | |
| NM_007326.4:c.241G>T | NP_015565.1:p.Gly81Cys | |
| NM_000398.7:c.310G>T MANE Select | NP_000389.1:p.Gly104Cys | |
| NM_001171660.2:c.409G>T | NP_001165131.1:p.Gly137Cys |