Linked Data
ClinVar Variation Id:
6790
ClinVar RCV Id:
RCV000007192
dbSNP Id:
rs121909766
PubMed:
PMID:11857552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71437936T>C , CM000673.2:g.71437936T>C | GRCh38 |
| NC_000011.9:g.71148982T>C , CM000673.1:g.71148982T>C | GRCh37 |
| NC_000011.8:g.70826630T>C | NCBI36 |
| NG_012655.2:g.15496A>G , LRG_340:g.15496A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525346.6:c.839A>G | ENSP00000435707.3:p.Tyr280Cys | |
| ENST00000526780.6:c.839A>G | ENSP00000435668.2:p.Tyr280Cys | |
| ENST00000527316.6:c.665A>G | ENSP00000435047.2:p.Tyr222Cys | |
| ENST00000682708.1:c.890A>G | ENSP00000506866.1:p.Tyr297Cys | |
| ENST00000682880.1:c.839A>G | ENSP00000507520.1:p.Tyr280Cys | |
| ENST00000683287.1:c.875A>G | ENSP00000507607.1:p.Tyr292Cys | |
| ENST00000683714.1:c.839A>G | ENSP00000508207.1:p.Tyr280Cys | |
| ENST00000684396.1:n.879A>G | ||
| ENST00000685320.1:c.254A>G | ENSP00000509319.1:p.Tyr85Cys | |
| ENST00000690257.1:c.743A>G | ENSP00000510750.1:p.Tyr248Cys | |
| ENST00000355527.8:c.839A>G MANE Select | ENSP00000347717.4:p.Tyr280Cys | |
| ENST00000355527.7:c.839A>G | ENSP00000347717.3:p.Tyr280Cys | |
| ENST00000407721.6:c.839A>G | ENSP00000384739.2:p.Tyr280Cys | |
| ENST00000525137.1:c.206A>G | ENSP00000435956.1:p.Tyr69Cys | |
| ENST00000527316.5:c.743A>G | ENSP00000435047.1:p.Tyr248Cys | |
| ENST00000533800.5:c.89A>G | ENSP00000435011.1:p.Tyr30Cys | |
| ENST00000534795.5:c.195A>G | ||
| NM_001163817.1:c.839A>G | NP_001157289.1:p.Tyr280Cys | |
| NM_001360.2:c.839A>G , LRG_340t1:c.839A>G | NP_001351.2:p.Tyr280Cys | |
| XM_011544777.1:c.839A>G | XP_011543079.1:p.Tyr280Cys | |
| XM_011544777.2:c.839A>G | XP_011543079.1:p.Tyr280Cys | |
| NM_001163817.2:c.839A>G | NP_001157289.1:p.Tyr280Cys | |
| NM_001360.3:c.839A>G MANE Select | NP_001351.2:p.Tyr280Cys |