Linked Data
ClinVar Variation Id:
1076651
ClinVar RCV Id:
RCV001390625
dbSNP Id:
rs1565584679
gnomAD v2:
11-71146554-T-C
gnomAD v4:
11-71435508-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435508T>C , CM000673.2:g.71435508T>C | GRCh38 |
| NC_000011.9:g.71146554T>C , CM000673.1:g.71146554T>C | GRCh37 |
| NC_000011.8:g.70824202T>C | NCBI36 |
| NG_012655.2:g.17924A>G , LRG_340:g.17924A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1295A>G | ENSP00000435707.3:p.Tyr432Cys | |
| ENST00000526780.6:c.1295A>G | ENSP00000435668.2:p.Tyr432Cys | |
| ENST00000527316.6:c.1121A>G | ENSP00000435047.2:p.Tyr374Cys | |
| ENST00000682708.1:c.1346A>G | ENSP00000506866.1:p.Tyr449Cys | |
| ENST00000683287.1:c.1331A>G | ENSP00000507607.1:p.Tyr444Cys | |
| ENST00000683714.1:c.*58A>G | ENSP00000508207.1:n.*58A>G | |
| ENST00000684396.1:n.1335A>G | ||
| ENST00000685320.1:c.710A>G | ENSP00000509319.1:p.Tyr237Cys | |
| ENST00000690257.1:c.1199A>G | ENSP00000510750.1:p.Tyr400Cys | |
| ENST00000355527.8:c.1295A>G MANE Select | ENSP00000347717.4:p.Tyr432Cys | |
| ENST00000355527.7:c.1295A>G | ENSP00000347717.3:p.Tyr432Cys | |
| ENST00000407721.6:c.1295A>G | ENSP00000384739.2:p.Tyr432Cys | |
| ENST00000525137.1:c.796A>G | ENSP00000435956.1:n.796A>G | |
| ENST00000533800.5:c.545A>G | ENSP00000435011.1:p.Tyr182Cys | |
| ENST00000534795.5:c.319+2304A>G | ||
| NM_001163817.1:c.1295A>G | NP_001157289.1:p.Tyr432Cys | |
| NM_001360.2:c.1295A>G , LRG_340t1:c.1295A>G | NP_001351.2:p.Tyr432Cys | |
| XM_011544777.1:c.*58A>G | XP_011543079.1:n.*58A>G | |
| XM_011544777.2:c.*58A>G | XP_011543079.1:n.*58A>G | |
| NM_001163817.2:c.1295A>G | NP_001157289.1:p.Tyr432Cys | |
| NM_001360.3:c.1295A>G MANE Select | NP_001351.2:p.Tyr432Cys |