Linked Data
ClinVar Variation Id:
1709241
dbSNP Id:
rs761458977
ExAC:
11:71146498 A / G
gnomAD v2:
11-71146498-A-G
gnomAD v3:
11-71435452-A-G
gnomAD v4:
11-71435452-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435452A>G , CM000673.2:g.71435452A>G | GRCh38 |
| NC_000011.9:g.71146498A>G , CM000673.1:g.71146498A>G | GRCh37 |
| NC_000011.8:g.70824146A>G | NCBI36 |
| NG_012655.2:g.17980T>C , LRG_340:g.17980T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1351T>C | ENSP00000435707.3:p.Cys451Arg | |
| ENST00000526780.6:c.1351T>C | ENSP00000435668.2:p.Cys451Arg | |
| ENST00000527316.6:c.1177T>C | ENSP00000435047.2:p.Cys393Arg | |
| ENST00000682708.1:c.1402T>C | ENSP00000506866.1:p.Cys468Arg | |
| ENST00000683287.1:c.1387T>C | ENSP00000507607.1:p.Cys463Arg | |
| ENST00000683714.1:c.*114T>C | ENSP00000508207.1:n.*114T>C | |
| ENST00000684396.1:n.1391T>C | ||
| ENST00000685320.1:c.766T>C | ENSP00000509319.1:p.Cys256Arg | |
| ENST00000690257.1:c.1255T>C | ENSP00000510750.1:p.Cys419Arg | |
| ENST00000355527.8:c.1351T>C MANE Select | ENSP00000347717.4:p.Cys451Arg | |
| ENST00000355527.7:c.1351T>C | ENSP00000347717.3:p.Cys451Arg | |
| ENST00000407721.6:c.1351T>C | ENSP00000384739.2:p.Cys451Arg | |
| ENST00000525137.1:c.852T>C | ENSP00000435956.1:n.852T>C | |
| ENST00000533800.5:c.601T>C | ENSP00000435011.1:p.Cys201Arg | |
| ENST00000534795.5:c.319+2360T>C | ||
| NM_001163817.1:c.1351T>C | NP_001157289.1:p.Cys451Arg | |
| NM_001360.2:c.1351T>C , LRG_340t1:c.1351T>C | NP_001351.2:p.Cys451Arg | |
| XM_011544777.1:c.*114T>C | XP_011543079.1:n.*114T>C | |
| XM_011544777.2:c.*114T>C | XP_011543079.1:n.*114T>C | |
| NM_001163817.2:c.1351T>C | NP_001157289.1:p.Cys451Arg | |
| NM_001360.3:c.1351T>C MANE Select | NP_001351.2:p.Cys451Arg |