Linked Data
ClinVar Variation Id:
234
ClinVar RCV Id:
RCV000000258
dbSNP Id:
rs121965006
ExAC:
22:43024239 A / G
gnomAD v2:
22-43024239-A-G
gnomAD v4:
22-42628233-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42628233A>G , CM000684.2:g.42628233A>G | GRCh38 |
| NC_000022.10:g.43024239A>G , CM000684.1:g.43024239A>G | GRCh37 |
| NC_000022.9:g.41354183A>G | NCBI36 |
| NG_012194.1:g.26167T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361740.9:c.382T>C | ENSP00000354468.5:p.Ser128Pro | |
| ENST00000402438.6:c.313T>C | ENSP00000385679.1:p.Ser105Pro | |
| ENST00000407332.6:c.400T>C | ENSP00000384457.2:p.Ser134Pro | |
| ENST00000407623.8:c.313T>C | ENSP00000384834.3:p.Ser105Pro | |
| ENST00000438270.2:c.313T>C | ENSP00000403439.2:p.Ser105Pro | |
| ENST00000684963.1:n.1659T>C | ||
| ENST00000686129.1:c.313T>C | ENSP00000508623.1:p.Ser105Pro | |
| ENST00000686523.1:c.*331T>C | ENSP00000508940.1:n.*331T>C | |
| ENST00000687183.1:n.443T>C | ||
| ENST00000687198.1:c.313T>C | ENSP00000508492.1:p.Ser105Pro | |
| ENST00000688117.1:c.481T>C | ENSP00000509015.1:p.Ser161Pro | |
| ENST00000688244.1:c.333+2649T>C | ENSP00000510355.1:n.333+2649T>C | |
| ENST00000689001.1:n.789T>C | ||
| ENST00000689195.1:c.382T>C | ENSP00000509895.1:p.Ser128Pro | |
| ENST00000689239.1:n.549T>C | ||
| ENST00000689795.1:n.544T>C | ||
| ENST00000690835.1:c.382T>C | ENSP00000509038.1:p.Ser128Pro | |
| ENST00000690993.1:n.459T>C | ||
| ENST00000691295.1:c.334-545T>C | ENSP00000508706.1:n.334-545T>C | |
| ENST00000691918.1:c.361T>C | ENSP00000509525.1:p.Ser121Pro | |
| ENST00000692152.1:c.313T>C | ENSP00000509317.1:p.Ser105Pro | |
| ENST00000692344.1:n.406T>C | ||
| ENST00000693157.1:c.302T>C | ENSP00000510610.1:n.302T>C | |
| ENST00000693363.1:c.382T>C | ENSP00000510411.1:p.Ser128Pro | |
| ENST00000693367.1:c.382T>C | ENSP00000508815.1:p.Ser128Pro | |
| ENST00000693639.1:c.375T>C | ENSP00000510223.1:p.Cys125= | |
| ENST00000693646.1:c.288T>C | ENSP00000508449.1:p.Cys96= | |
| ENST00000352397.10:c.382T>C MANE Select | ENSP00000338461.6:p.Ser128Pro | |
| ENST00000352397.9:c.382T>C | ENSP00000338461.6:p.Ser128Pro | |
| ENST00000361740.8:c.481T>C | ENSP00000354468.4:p.Ser161Pro | |
| ENST00000402438.5:c.313T>C | ENSP00000385679.1:p.Ser105Pro | |
| ENST00000407332.5:c.313T>C | ENSP00000384457.1:p.Ser105Pro | |
| ENST00000407623.7:c.313T>C | ENSP00000384834.3:p.Ser105Pro | |
| ENST00000438270.1:c.313T>C | ENSP00000403439.1:p.Ser105Pro | |
| ENST00000470741.1:n.2516T>C | ||
| NM_000398.6:c.382T>C | NP_000389.1:p.Ser128Pro | |
| NM_001129819.2:c.313T>C | NP_001123291.1:p.Ser105Pro | |
| NM_001171660.1:c.481T>C | NP_001165131.1:p.Ser161Pro | |
| NM_001171661.1:c.313T>C | NP_001165132.1:p.Ser105Pro | |
| NM_007326.4:c.313T>C | NP_015565.1:p.Ser105Pro | |
| NM_000398.7:c.382T>C MANE Select | NP_000389.1:p.Ser128Pro | |
| NM_001171660.2:c.481T>C | NP_001165131.1:p.Ser161Pro |