Linked Data
ClinVar Variation Id:
16903
dbSNP Id:
rs28931607
gnomAD v2:
7-75615277-G-A
gnomAD v3:
7-75985959-G-A
gnomAD v4:
7-75985959-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75985959G>A , CM000669.2:g.75985959G>A | GRCh38 |
| NC_000007.13:g.75615277G>A , CM000669.1:g.75615277G>A | GRCh37 |
| NC_000007.12:g.75453213G>A | NCBI36 |
| NG_008930.1:g.75858G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475509.2:c.1481G>A | ENSP00000516446.1:p.Cys494Tyr | |
| ENST00000706544.1:c.1607G>A | ENSP00000516442.1:p.Cys536Tyr | |
| ENST00000706545.1:c.1706G>A | ENSP00000516443.1:p.Cys569Tyr | |
| ENST00000706546.1:c.1706G>A | ENSP00000516444.1:p.Cys569Tyr | |
| ENST00000706547.1:c.1706G>A | ENSP00000516445.1:p.Cys569Tyr | |
| ENST00000461988.6:c.1706G>A MANE Select | ENSP00000419970.1:p.Cys569Tyr | |
| ENST00000394893.5:c.1706G>A | ENSP00000378355.1:p.Cys569Tyr | |
| ENST00000412064.6:c.*109-101G>A | ENSP00000404731.2:n.*109-101G>A | |
| ENST00000439269.1:c.920G>A | ENSP00000412490.1:p.Cys307Tyr | |
| ENST00000447222.5:c.1857G>A | ||
| ENST00000454934.5:c.*1011G>A | ENSP00000414263.1:n.*1011G>A | |
| ENST00000461988.5:c.1706G>A | ENSP00000419970.1:p.Cys569Tyr | |
| ENST00000493973.1:n.317G>A | ||
| NM_000941.2:c.1706G>A | NP_000932.3:p.Cys569Tyr | |
| NM_000941.3:c.1706G>A | NP_000932.3:p.Cys569Tyr | |
| NM_001367562.1:c.1706G>A | NP_001354491.1:p.Cys569Tyr | |
| NM_001382655.1:c.1760G>A | NP_001369584.1:p.Cys587Tyr | |
| NM_001382657.1:c.1706G>A | NP_001369586.1:p.Cys569Tyr | |
| NM_001382658.1:c.1706G>A | NP_001369587.1:p.Cys569Tyr | |
| NM_001382659.1:c.1706G>A | NP_001369588.1:p.Cys569Tyr | |
| NM_001382662.1:c.1556G>A | NP_001369591.1:p.Cys519Tyr | |
| NM_001367562.3:c.1697G>A | NP_001354491.2:p.Cys566Tyr | |
| NM_001382655.3:c.1751G>A | NP_001369584.2:p.Cys584Tyr | |
| NM_001382657.2:c.1697G>A | NP_001369586.2:p.Cys566Tyr | |
| NM_001382658.3:c.1697G>A | NP_001369587.2:p.Cys566Tyr | |
| NM_001382659.3:c.1697G>A | NP_001369588.2:p.Cys566Tyr | |
| NM_001382662.3:c.1547G>A | NP_001369591.2:p.Cys516Tyr | |
| NM_001395413.1:c.1697G>A MANE Select | NP_001382342.1:p.Cys566Tyr |