Linked Data
ClinVar Variation Id:
3492
ClinVar RCV Id:
RCV000003664
dbSNP Id:
rs121907904
PubMed:
PMID:1302008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396313C>T , CM000673.2:g.32396313C>T | GRCh38 |
| NC_000011.9:g.32417859C>T , CM000673.1:g.32417859C>T | GRCh37 |
| NC_000011.8:g.32374435C>T | NCBI36 |
| NG_009272.1:g.44229G>A , LRG_525:g.44229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1157G>A | ENSP00000331327.5:p.Cys386Tyr | |
| ENST00000379077.9:c.*392G>A | ENSP00000368368.5:n.*392G>A | |
| ENST00000379079.8:c.557G>A | ENSP00000368370.2:p.Cys186Tyr | |
| ENST00000448076.9:c.1208G>A | ENSP00000413452.5:p.Cys403Tyr | |
| ENST00000452863.10:c.1208G>A MANE Select | ENSP00000415516.5:p.Cys403Tyr | |
| ENST00000526685.2:n.662G>A | ||
| ENST00000639563.3:c.1157G>A | ENSP00000492269.3:p.Cys386Tyr | |
| ENST00000639907.2:n.351G>A | ||
| ENST00000640146.2:c.533G>A | ENSP00000491984.2:p.Cys178Tyr | |
| ENST00000650861.1:n.1789G>A | ||
| ENST00000651459.1:c.36-3558G>A | ||
| ENST00000651668.1:n.145G>A | ||
| ENST00000651794.1:n.951G>A | ||
| ENST00000651819.1:n.133G>A | ||
| ENST00000652579.1:n.368G>A | ||
| ENST00000652724.1:n.398G>A | ||
| ENST00000332351.7:c.1193G>A | ENSP00000331327.3:p.Cys398Tyr | |
| ENST00000379077.7:c.*392G>A | ENSP00000368368.3:n.*392G>A | |
| ENST00000379079.6:c.557G>A | ENSP00000368370.2:p.Cys186Tyr | |
| ENST00000448076.7:c.1193G>A | ENSP00000413452.3:p.Cys398Tyr | |
| ENST00000452863.7:c.1142G>A | ENSP00000415516.3:p.Cys381Tyr | |
| ENST00000526685.1:c.20G>A | ENSP00000436292.1:p.Cys7Tyr | |
| ENST00000527882.5:c.264G>A | ||
| ENST00000530998.5:c.506G>A | ENSP00000435307.1:p.Cys169Tyr | |
| NM_000378.4:c.1142G>A | NP_000369.3:p.Cys381Tyr | |
| NM_001198551.1:c.557G>A , LRG_525t2:c.557G>A | NP_001185480.1:p.Cys186Tyr | |
| NM_001198552.1:c.506G>A | NP_001185481.1:p.Cys169Tyr | |
| NM_024424.3:c.1193G>A | NP_077742.2:p.Cys398Tyr | |
| NM_024426.4:c.1193G>A | NP_077744.3:p.Cys398Tyr | |
| NM_000378.5:c.1157G>A | NP_000369.4:p.Cys386Tyr | |
| NM_024424.4:c.1208G>A | NP_077742.3:p.Cys403Tyr | |
| NM_024426.5:c.1208G>A | NP_077744.4:p.Cys403Tyr | |
| NM_001367854.1:c.20G>A | NP_001354783.1:p.Cys7Tyr | |
| NR_160306.1:n.1540G>A | ||
| NM_000378.6:c.1157G>A | NP_000369.4:p.Cys386Tyr | |
| NM_001198552.2:c.506G>A | NP_001185481.1:p.Cys169Tyr | |
| NM_024424.5:c.1208G>A | NP_077742.3:p.Cys403Tyr | |
| NM_024426.6:c.1208G>A MANE Select | NP_077744.4:p.Cys403Tyr |