Linked Data
ClinVar Variation Id:
240
ClinVar RCV Id:
RCV000000264
dbSNP Id:
rs121965010
gnomAD v4:
22-42623867-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42623867G>A , CM000684.2:g.42623867G>A | GRCh38 |
| NC_000022.10:g.43019873G>A , CM000684.1:g.43019873G>A | GRCh37 |
| NC_000022.9:g.41349817G>A | NCBI36 |
| NG_012194.1:g.30533C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361740.9:c.787C>T | ENSP00000354468.5:p.Arg263Ter | |
| ENST00000402438.6:c.586C>T | ENSP00000385679.1:p.Arg196Ter | |
| ENST00000407332.6:c.673C>T | ENSP00000384457.2:p.Arg225Ter | |
| ENST00000407623.8:c.586C>T | ENSP00000384834.3:p.Arg196Ter | |
| ENST00000617178.5:c.192C>T | ||
| ENST00000684963.1:n.2395C>T | ||
| ENST00000685184.1:n.247C>T | ||
| ENST00000686523.1:c.*604C>T | ENSP00000508940.1:n.*604C>T | |
| ENST00000687183.1:n.931C>T | ||
| ENST00000687198.1:c.586C>T | ENSP00000508492.1:p.Arg196Ter | |
| ENST00000688117.1:c.754C>T | ENSP00000509015.1:p.Arg252Ter | |
| ENST00000688244.1:c.355C>T | ENSP00000510355.1:p.Arg119Ter | |
| ENST00000689001.1:n.1277C>T | ||
| ENST00000689195.1:c.571C>T | ENSP00000509895.1:p.Arg191Ter | |
| ENST00000689239.1:n.822C>T | ||
| ENST00000689795.1:n.916C>T | ||
| ENST00000690835.1:c.*34C>T | ENSP00000509038.1:n.*34C>T | |
| ENST00000690993.1:n.1410C>T | ||
| ENST00000691295.1:c.*138C>T | ENSP00000508706.1:n.*138C>T | |
| ENST00000691918.1:c.945C>T | ENSP00000509525.1:n.945C>T | |
| ENST00000692152.1:c.586C>T | ENSP00000509317.1:p.Arg196Ter | |
| ENST00000692344.1:n.1142C>T | ||
| ENST00000693363.1:c.697C>T | ENSP00000510411.1:p.Arg233Ter | |
| ENST00000693367.1:c.655C>T | ENSP00000508815.1:p.Arg219Ter | |
| ENST00000693639.1:c.648C>T | ENSP00000510223.1:n.648C>T | |
| ENST00000693646.1:c.561C>T | ENSP00000508449.1:n.561C>T | |
| ENST00000352397.10:c.655C>T MANE Select | ENSP00000338461.6:p.Arg219Ter | |
| ENST00000352397.9:c.655C>T | ENSP00000338461.6:p.Arg219Ter | |
| ENST00000361740.8:c.754C>T | ENSP00000354468.4:p.Arg252Ter | |
| ENST00000402438.5:c.586C>T | ENSP00000385679.1:p.Arg196Ter | |
| ENST00000407332.5:c.586C>T | ENSP00000384457.1:p.Arg196Ter | |
| ENST00000407623.7:c.586C>T | ENSP00000384834.3:p.Arg196Ter | |
| ENST00000470741.1:n.2789C>T | ||
| NM_000398.6:c.655C>T | NP_000389.1:p.Arg219Ter | |
| NM_001129819.2:c.586C>T | NP_001123291.1:p.Arg196Ter | |
| NM_001171660.1:c.754C>T | NP_001165131.1:p.Arg252Ter | |
| NM_001171661.1:c.586C>T | NP_001165132.1:p.Arg196Ter | |
| NM_007326.4:c.586C>T | NP_015565.1:p.Arg196Ter | |
| NM_000398.7:c.655C>T MANE Select | NP_000389.1:p.Arg219Ter | |
| NM_001171660.2:c.754C>T | NP_001165131.1:p.Arg252Ter |