Linked Data
ClinVar Variation Id:
5657
ClinVar RCV Id:
RCV000006011
dbSNP Id:
rs121908509
PubMed:
PMID:10610178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32116199C>G , CM000664.2:g.32116199C>G | GRCh38 |
| NC_000002.11:g.32341268C>G , CM000664.1:g.32341268C>G | GRCh37 |
| NC_000002.10:g.32194772C>G | NCBI36 |
| NG_008730.1:g.57589C>G , LRG_714:g.57589C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*745C>G | ENSP00000515816.1:n.*745C>G | |
| ENST00000315285.9:c.1085C>G MANE Select | ENSP00000320885.3:p.Ser362Cys | |
| ENST00000621856.2:c.1082C>G | ENSP00000482496.2:p.Ser361Cys | |
| ENST00000642281.1:c.969C>G | ||
| ENST00000642455.1:c.986C>G | ENSP00000493827.1:p.Ser329Cys | |
| ENST00000642751.1:c.859C>G | ||
| ENST00000642999.1:c.827C>G | ENSP00000496589.1:p.Ser276Cys | |
| ENST00000643327.1:c.244C>G | ||
| ENST00000643334.1:c.665C>G | ||
| ENST00000644408.1:c.961C>G | ||
| ENST00000644954.1:c.731C>G | ENSP00000494312.1:p.Ser244Cys | |
| ENST00000645671.1:c.535C>G | ||
| ENST00000645730.1:c.432C>G | ||
| ENST00000646082.1:c.731C>G | ||
| ENST00000646571.1:c.989C>G | ENSP00000495015.1:p.Ser330Cys | |
| ENST00000647007.1:n.777C>G | ||
| ENST00000647133.1:c.660C>G | ||
| ENST00000315285.7:c.1085C>G | ENSP00000320885.3:p.Ser362Cys | |
| ENST00000345662.5:c.989C>G | ENSP00000340817.1:p.Ser330Cys | |
| ENST00000615843.4:c.1085C>G | ENSP00000480893.1:p.Ser362Cys | |
| ENST00000621856.1:c.827C>G | ENSP00000482496.1:p.Ser276Cys | |
| NM_014946.3:c.1085C>G , LRG_714t1:c.1085C>G | NP_055761.2:p.Ser362Cys | |
| NM_199436.1:c.989C>G | NP_955468.1:p.Ser330Cys | |
| XM_005264516.3:c.1082C>G | XP_005264573.1:p.Ser361Cys | |
| XM_011533067.1:c.1085C>G | XP_011531369.1:p.Ser362Cys | |
| NM_001363823.1:c.1082C>G | NP_001350752.1:p.Ser361Cys | |
| NM_001363875.1:c.986C>G | NP_001350804.1:p.Ser329Cys | |
| XM_005264516.5:c.1082C>G | XP_005264573.1:p.Ser361Cys | |
| XM_011533067.2:c.1085C>G | XP_011531369.1:p.Ser362Cys | |
| XM_017004778.2:c.989C>G | XP_016860267.1:p.Ser330Cys | |
| NM_001363823.2:c.1082C>G | NP_001350752.1:p.Ser361Cys | |
| NM_001363875.2:c.986C>G | NP_001350804.1:p.Ser329Cys | |
| NM_001377959.1:c.989C>G | NP_001364888.1:p.Ser330Cys | |
| NM_014946.4:c.1085C>G MANE Select | NP_055761.2:p.Ser362Cys | |
| NM_199436.2:c.989C>G | NP_955468.1:p.Ser330Cys |