Linked Data
ClinVar Variation Id:
13864
ClinVar RCV Id:
RCV000014878
dbSNP Id:
rs28933371
PubMed:
PMID:11074500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54727519T>G , CM000666.2:g.54727519T>G | GRCh38 |
| NC_000004.11:g.55593685T>G , CM000666.1:g.55593685T>G | GRCh37 |
| NC_000004.10:g.55288442T>G | NCBI36 |
| NG_007456.1:g.74525T>G , LRG_307:g.74525T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.1742T>G | ENSP00000390987.3:p.Phe581Cys | |
| ENST00000685269.1:n.1829T>G | ||
| ENST00000686011.1:c.1739T>G | ENSP00000509704.1:p.Phe580Cys | |
| ENST00000687109.1:c.1754T>G | ENSP00000509371.1:p.Phe585Cys | |
| ENST00000687208.1:n.2166T>G | ||
| ENST00000687246.1:c.1739T>G | ENSP00000509114.1:p.Phe580Cys | |
| ENST00000687265.1:n.1909T>G | ||
| ENST00000687295.1:c.1739T>G | ENSP00000509450.1:p.Phe580Cys | |
| ENST00000689832.1:c.1754T>G | ENSP00000509084.1:p.Phe585Cys | |
| ENST00000689994.1:c.1241T>G | ENSP00000509156.1:p.Phe414Cys | |
| ENST00000690543.1:c.1742T>G | ENSP00000508831.1:p.Phe581Cys | |
| ENST00000690917.1:n.1969T>G | ||
| ENST00000691361.1:n.661T>G | ||
| ENST00000692783.1:c.1751T>G | ENSP00000508733.1:p.Phe584Cys | |
| ENST00000692991.1:n.1848T>G | ||
| ENST00000288135.6:c.1751T>G MANE Select | ENSP00000288135.6:p.Phe584Cys | |
| ENST00000288135.5:c.1751T>G | ENSP00000288135.5:p.Phe584Cys | |
| ENST00000412167.6:c.1739T>G | ENSP00000390987.2:p.Phe580Cys | |
| NM_000222.2:c.1751T>G , LRG_307t1:c.1751T>G | NP_000213.1:p.Phe584Cys | |
| NM_001093772.1:c.1739T>G | NP_001087241.1:p.Phe580Cys | |
| XM_005265740.1:c.1754T>G | XP_005265797.1:p.Phe585Cys | |
| XM_005265741.1:c.1754T>G | XP_005265798.1:p.Phe585Cys | |
| XM_005265742.1:c.1742T>G | XP_005265799.1:p.Phe581Cys | |
| XM_005265742.3:c.1742T>G | XP_005265799.1:p.Phe581Cys | |
| XM_017008178.1:c.1751T>G | XP_016863667.1:p.Phe584Cys | |
| XM_017008179.1:c.1742T>G | XP_016863668.1:p.Phe581Cys | |
| XM_017008180.1:c.1739T>G | XP_016863669.1:p.Phe580Cys | |
| NM_000222.3:c.1751T>G MANE Select | NP_000213.1:p.Phe584Cys | |
| NM_001093772.2:c.1739T>G | NP_001087241.1:p.Phe580Cys | |
| NM_001385284.1:c.1754T>G | NP_001372213.1:p.Phe585Cys | |
| NM_001385285.1:c.1751T>G | NP_001372214.1:p.Phe584Cys | |
| NM_001385286.1:c.1739T>G | NP_001372215.1:p.Phe580Cys | |
| NM_001385288.1:c.1742T>G | NP_001372217.1:p.Phe581Cys | |
| NM_001385290.1:c.1754T>G | NP_001372219.1:p.Phe585Cys | |
| NM_001385292.1:c.1742T>G | NP_001372221.1:p.Phe581Cys |