Linked Data
ClinVar Variation Id:
435700
ClinVar RCV Id:
RCV000501686
dbSNP Id:
rs887386390
gnomAD v4:
14-50283990-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50283990T>C , CM000676.2:g.50283990T>C | GRCh38 |
| NC_000014.8:g.50750708T>C , CM000676.1:g.50750708T>C | GRCh37 |
| NC_000014.7:g.49820458T>C | NCBI36 |
| NG_008092.1:g.33240A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267436.9:c.584A>G MANE Select | ENSP00000267436.4:p.Tyr195Cys | |
| ENST00000261699.8:c.584A>G | ENSP00000261699.4:p.Tyr195Cys | |
| ENST00000267436.8:c.584A>G | ENSP00000267436.4:p.Tyr195Cys | |
| ENST00000421284.7:c.584A>G | ENSP00000405559.3:p.Tyr195Cys | |
| ENST00000555423.5:c.584A>G | ENSP00000450494.1:p.Tyr195Cys | |
| ENST00000555610.1:c.*27A>G | ENSP00000452483.1:n.*27A>G | |
| NM_024884.2:c.584A>G | NP_079160.1:p.Tyr195Cys | |
| XM_005268075.3:c.584A>G | XP_005268132.1:p.Tyr195Cys | |
| XM_011537166.1:c.473A>G | XP_011535468.1:p.Tyr158Cys | |
| XM_011537167.1:c.449A>G | XP_011535469.1:p.Tyr150Cys | |
| XM_011537168.1:c.38A>G | XP_011535470.1:p.Tyr13Cys | |
| XM_011537169.1:c.38A>G | XP_011535471.1:p.Tyr13Cys | |
| XR_943538.1:n.823A>G | ||
| XM_005268075.5:c.584A>G | XP_005268132.1:p.Tyr195Cys | |
| XM_011537166.3:c.473A>G | XP_011535468.1:p.Tyr158Cys | |
| XM_011537167.3:c.449A>G | XP_011535469.1:p.Tyr150Cys | |
| XM_011537168.3:c.38A>G | XP_011535470.1:p.Tyr13Cys | |
| XM_017021655.2:c.473A>G | XP_016877144.1:p.Tyr158Cys | |
| XM_017021656.2:c.38A>G | XP_016877145.1:p.Tyr13Cys | |
| XM_017021657.2:c.38A>G | XP_016877146.1:p.Tyr13Cys | |
| XM_017021658.1:c.584A>G | XP_016877147.1:p.Tyr195Cys | |
| NM_024884.3:c.584A>G MANE Select | NP_079160.1:p.Tyr195Cys |