Linked Data
ClinVar Variation Id:
16911
ClinVar RCV Id:
RCV000018411
dbSNP Id:
rs121912975
PubMed:
PMID:15483095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75985986A>G , CM000669.2:g.75985986A>G | GRCh38 |
| NC_000007.13:g.75615304A>G , CM000669.1:g.75615304A>G | GRCh37 |
| NC_000007.12:g.75453240A>G | NCBI36 |
| NG_008930.1:g.75885A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475509.2:c.1508A>G | ENSP00000516446.1:p.Tyr503Cys | |
| ENST00000706544.1:c.1634A>G | ENSP00000516442.1:p.Tyr545Cys | |
| ENST00000706545.1:c.1733A>G | ENSP00000516443.1:p.Tyr578Cys | |
| ENST00000706546.1:c.1733A>G | ENSP00000516444.1:p.Tyr578Cys | |
| ENST00000706547.1:c.1733A>G | ENSP00000516445.1:p.Tyr578Cys | |
| ENST00000461988.6:c.1733A>G MANE Select | ENSP00000419970.1:p.Tyr578Cys | |
| ENST00000394893.5:c.1733A>G | ENSP00000378355.1:p.Tyr578Cys | |
| ENST00000412064.6:c.*109-74A>G | ENSP00000404731.2:n.*109-74A>G | |
| ENST00000439269.1:c.947A>G | ENSP00000412490.1:p.Tyr316Cys | |
| ENST00000447222.5:c.1884A>G | ||
| ENST00000454934.5:c.*1038A>G | ENSP00000414263.1:n.*1038A>G | |
| ENST00000461988.5:c.1733A>G | ENSP00000419970.1:p.Tyr578Cys | |
| ENST00000493973.1:n.344A>G | ||
| NM_000941.2:c.1733A>G | NP_000932.3:p.Tyr578Cys | |
| NM_000941.3:c.1733A>G | NP_000932.3:p.Tyr578Cys | |
| NM_001367562.1:c.1733A>G | NP_001354491.1:p.Tyr578Cys | |
| NM_001382655.1:c.1787A>G | NP_001369584.1:p.Tyr596Cys | |
| NM_001382657.1:c.1733A>G | NP_001369586.1:p.Tyr578Cys | |
| NM_001382658.1:c.1733A>G | NP_001369587.1:p.Tyr578Cys | |
| NM_001382659.1:c.1733A>G | NP_001369588.1:p.Tyr578Cys | |
| NM_001382662.1:c.1583A>G | NP_001369591.1:p.Tyr528Cys | |
| NM_001367562.3:c.1724A>G | NP_001354491.2:p.Tyr575Cys | |
| NM_001382655.3:c.1778A>G | NP_001369584.2:p.Tyr593Cys | |
| NM_001382657.2:c.1724A>G | NP_001369586.2:p.Tyr575Cys | |
| NM_001382658.3:c.1724A>G | NP_001369587.2:p.Tyr575Cys | |
| NM_001382659.3:c.1724A>G | NP_001369588.2:p.Tyr575Cys | |
| NM_001382662.3:c.1574A>G | NP_001369591.2:p.Tyr525Cys | |
| NM_001395413.1:c.1724A>G MANE Select | NP_001382342.1:p.Tyr575Cys |