Linked Data
ClinVar Variation Id:
2069
ClinVar RCV Id:
RCV000002150
dbSNP Id:
rs137852780
PubMed:
PMID:17159113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52454147G>A , CM000668.2:g.52454147G>A | GRCh38 |
| NC_000006.11:g.52318945G>A , CM000668.1:g.52318945G>A | GRCh37 |
| NC_000006.10:g.52426904G>A | NCBI36 |
| NG_016760.1:g.38952G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371068.11:c.776G>A MANE Select | ENSP00000360107.4:p.Cys259Tyr | |
| ENST00000480623.6:c.776G>A | ENSP00000434498.2:p.Cys259Tyr | |
| ENST00000635760.1:c.452G>A | ENSP00000489765.1:p.Cys151Tyr | |
| ENST00000635812.1:c.*77G>A | ENSP00000490859.1:n.*77G>A | |
| ENST00000635866.1:c.*645G>A | ENSP00000489866.1:n.*645G>A | |
| ENST00000635911.1:n.2294G>A | ||
| ENST00000635984.1:c.452G>A | ENSP00000489921.1:p.Cys151Tyr | |
| ENST00000635996.1:c.776G>A | ENSP00000490256.1:p.Cys259Tyr | |
| ENST00000636107.1:c.776G>A | ENSP00000489680.1:p.Cys259Tyr | |
| ENST00000636311.1:n.670G>A | ||
| ENST00000636343.1:c.442G>A | ||
| ENST00000636379.1:c.488G>A | ENSP00000490622.1:p.Cys163Tyr | |
| ENST00000636398.1:c.476G>A | ENSP00000489654.1:n.476G>A | |
| ENST00000636489.1:c.719G>A | ENSP00000489998.1:p.Cys240Tyr | |
| ENST00000636616.1:n.392G>A | ||
| ENST00000636702.1:c.746G>A | ENSP00000489623.1:p.Cys249Tyr | |
| ENST00000636954.1:c.719G>A | ENSP00000489966.1:p.Cys240Tyr | |
| ENST00000637089.1:c.776G>A | ENSP00000489854.1:p.Cys259Tyr | |
| ENST00000637263.1:c.776G>A | ENSP00000489700.1:p.Cys259Tyr | |
| ENST00000637340.1:n.2701G>A | ||
| ENST00000637353.1:c.776G>A | ENSP00000490441.1:p.Cys259Tyr | |
| ENST00000637602.1:c.*477G>A | ENSP00000490074.1:n.*477G>A | |
| ENST00000637849.1:n.840G>A | ||
| ENST00000637892.1:n.980G>A | ||
| ENST00000371068.9:c.776G>A | ENSP00000360107.4:p.Cys259Tyr | |
| ENST00000480623.5:c.*1196G>A | ENSP00000434498.1:n.*1196G>A | |
| ENST00000538167.2:c.719G>A | ENSP00000444521.1:p.Cys240Tyr | |
| NM_001172420.1:c.719G>A | NP_001165891.1:p.Cys240Tyr | |
| NM_018100.3:c.776G>A | NP_060570.2:p.Cys259Tyr | |
| NR_033327.1:n.2248G>A | ||
| NM_018100.4:c.776G>A MANE Select | NP_060570.2:p.Cys259Tyr | |
| NM_001172420.2:c.719G>A | NP_001165891.1:p.Cys240Tyr | |
| NR_033327.2:n.2102G>A |