Linked Data
ClinVar Variation Id:
839516
ClinVar RCV Id:
RCV001041290
dbSNP Id:
rs1555145862
gnomAD v4:
11-71437836-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71437836C>G , CM000673.2:g.71437836C>G | GRCh38 |
| NC_000011.9:g.71148882C>G , CM000673.1:g.71148882C>G | GRCh37 |
| NC_000011.8:g.70826530C>G | NCBI36 |
| NG_012655.2:g.15596G>C , LRG_340:g.15596G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.939G>C | ENSP00000435707.3:p.Trp313Cys | |
| ENST00000526780.6:c.939G>C | ENSP00000435668.2:p.Trp313Cys | |
| ENST00000527316.6:c.765G>C | ENSP00000435047.2:p.Trp255Cys | |
| ENST00000682708.1:c.990G>C | ENSP00000506866.1:p.Trp330Cys | |
| ENST00000682880.1:c.939G>C | ENSP00000507520.1:p.Trp313Cys | |
| ENST00000683287.1:c.975G>C | ENSP00000507607.1:p.Trp325Cys | |
| ENST00000683714.1:c.939G>C | ENSP00000508207.1:p.Trp313Cys | |
| ENST00000684396.1:n.979G>C | ||
| ENST00000685320.1:c.354G>C | ENSP00000509319.1:p.Trp118Cys | |
| ENST00000690257.1:c.843G>C | ENSP00000510750.1:p.Trp281Cys | |
| ENST00000355527.8:c.939G>C MANE Select | ENSP00000347717.4:p.Trp313Cys | |
| ENST00000355527.7:c.939G>C | ENSP00000347717.3:p.Trp313Cys | |
| ENST00000407721.6:c.939G>C | ENSP00000384739.2:p.Trp313Cys | |
| ENST00000525137.1:c.306G>C | ENSP00000435956.1:p.Trp102Cys | |
| ENST00000533800.5:c.189G>C | ENSP00000435011.1:p.Trp63Cys | |
| ENST00000534795.5:c.295G>C | ||
| NM_001163817.1:c.939G>C | NP_001157289.1:p.Trp313Cys | |
| NM_001360.2:c.939G>C , LRG_340t1:c.939G>C | NP_001351.2:p.Trp313Cys | |
| XM_011544777.1:c.939G>C | XP_011543079.1:p.Trp313Cys | |
| XM_011544777.2:c.939G>C | XP_011543079.1:p.Trp313Cys | |
| NM_001163817.2:c.939G>C | NP_001157289.1:p.Trp313Cys | |
| NM_001360.3:c.939G>C MANE Select | NP_001351.2:p.Trp313Cys |