Linked Data
ClinVar Variation Id:
284527
dbSNP Id:
rs373306653
ExAC:
11:71146711 A / G
gnomAD v2:
11-71146711-A-G
gnomAD v3:
11-71435665-A-G
gnomAD v4:
11-71435665-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435665A>G , CM000673.2:g.71435665A>G | GRCh38 |
| NC_000011.9:g.71146711A>G , CM000673.1:g.71146711A>G | GRCh37 |
| NC_000011.8:g.70824359A>G | NCBI36 |
| NG_012655.2:g.17767T>C , LRG_340:g.17767T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1138T>C | ENSP00000435707.3:p.Cys380Arg | |
| ENST00000526780.6:c.1138T>C | ENSP00000435668.2:p.Cys380Arg | |
| ENST00000527316.6:c.964T>C | ENSP00000435047.2:p.Cys322Arg | |
| ENST00000682708.1:c.1189T>C | ENSP00000506866.1:p.Cys397Arg | |
| ENST00000683287.1:c.1174T>C | ENSP00000507607.1:p.Cys392Arg | |
| ENST00000683714.1:c.1146T>C | ENSP00000508207.1:p.Ser382= | |
| ENST00000684396.1:n.1178T>C | ||
| ENST00000685320.1:c.553T>C | ENSP00000509319.1:p.Cys185Arg | |
| ENST00000690257.1:c.1042T>C | ENSP00000510750.1:p.Cys348Arg | |
| ENST00000355527.8:c.1138T>C MANE Select | ENSP00000347717.4:p.Cys380Arg | |
| ENST00000355527.7:c.1138T>C | ENSP00000347717.3:p.Cys380Arg | |
| ENST00000407721.6:c.1138T>C | ENSP00000384739.2:p.Cys380Arg | |
| ENST00000525137.1:c.639T>C | ENSP00000435956.1:p.Ser213= | |
| ENST00000533800.5:c.388T>C | ENSP00000435011.1:p.Cys130Arg | |
| ENST00000534795.5:c.319+2147T>C | ||
| NM_001163817.1:c.1138T>C | NP_001157289.1:p.Cys380Arg | |
| NM_001360.2:c.1138T>C , LRG_340t1:c.1138T>C | NP_001351.2:p.Cys380Arg | |
| XM_011544777.1:c.1272T>C | XP_011543079.1:p.Ser424= | |
| XM_011544777.2:c.1272T>C | XP_011543079.1:p.Ser424= | |
| NM_001163817.2:c.1138T>C | NP_001157289.1:p.Cys380Arg | |
| NM_001360.3:c.1138T>C MANE Select | NP_001351.2:p.Cys380Arg |