Linked Data
ClinVar Variation Id:
187904
ClinVar RCV Id:
RCV000167624
dbSNP Id:
rs758206023
ExAC:
1:11850900 G / C
gnomAD v2:
1-11850900-G-C
gnomAD v3:
1-11790843-G-C
gnomAD v4:
1-11790843-G-C
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11790843G>C , CM000663.2:g.11790843G>C | GRCh38 |
| NC_000001.10:g.11850900G>C , CM000663.1:g.11850900G>C | GRCh37 |
| NC_000001.9:g.11773487G>C | NCBI36 |
| NG_013351.1:g.20261C>G , LRG_726:g.20261C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.1931C>G | ENSP00000365770.1:p.Ser644Cys | |
| ENST00000376590.9:c.1808C>G MANE Select | ENSP00000365775.3:p.Ser603Cys | |
| ENST00000376592.6:c.1808C>G | ENSP00000365777.1:p.Ser603Cys | |
| ENST00000423400.7:c.1928C>G | ENSP00000398908.3:p.Ser643Cys | |
| ENST00000641407.1:c.1753-127C>G | ENSP00000493098.1:n.1753-127C>G | |
| ENST00000641446.1:c.*267C>G | ENSP00000493262.1:n.*267C>G | |
| ENST00000641747.1:c.*1320C>G | ENSP00000493116.1:n.*1320C>G | |
| ENST00000641759.1:n.2177C>G | ||
| ENST00000641805.1:n.2270-127C>G | ||
| ENST00000641820.1:c.1073C>G | ENSP00000492937.1:p.Ser358Cys | |
| ENST00000376583.7:c.1931C>G | ENSP00000365767.3:p.Ser644Cys | |
| ENST00000376585.5:c.1931C>G | ENSP00000365770.1:p.Ser644Cys | |
| ENST00000376590.7:c.1808C>G | ENSP00000365775.3:p.Ser603Cys | |
| ENST00000376592.5:c.1808C>G | ENSP00000365777.1:p.Ser603Cys | |
| NM_005957.4:c.1808C>G , LRG_726t1:c.1808C>G | NP_005948.3:p.Ser603Cys | |
| XM_005263458.2:c.1931C>G | XP_005263515.1:p.Ser644Cys | |
| XM_005263460.3:c.1808C>G | XP_005263517.1:p.Ser603Cys | |
| XM_005263461.3:c.1808C>G | XP_005263518.1:p.Ser603Cys | |
| XM_005263462.3:c.1808C>G | XP_005263519.1:p.Ser603Cys | |
| XM_005263463.2:c.1562C>G | XP_005263520.1:p.Ser521Cys | |
| XM_011541495.1:c.1928C>G | XP_011539797.1:p.Ser643Cys | |
| XM_011541496.1:c.1876-127C>G | XP_011539798.1:n.1876-127C>G | |
| NM_001330358.1:c.1931C>G | NP_001317287.1:p.Ser644Cys | |
| XM_005263460.5:c.1808C>G | XP_005263517.1:p.Ser603Cys | |
| XM_005263462.4:c.1808C>G | XP_005263519.1:p.Ser603Cys | |
| XM_005263463.4:c.1562C>G | XP_005263520.1:p.Ser521Cys | |
| XM_011541495.3:c.1928C>G | XP_011539797.1:p.Ser643Cys | |
| XM_011541496.3:c.1876-127C>G | XP_011539798.1:n.1876-127C>G | |
| XM_017001328.2:c.1876-95C>G | XP_016856817.1:n.1876-95C>G | |
| XM_024447198.1:c.1562C>G | XP_024302966.1:p.Ser521Cys | |
| XR_002956640.1:n.2854-127C>G | ||
| NM_005957.5:c.1808C>G MANE Select | NP_005948.3:p.Ser603Cys | |
| NM_001330358.2:c.1931C>G | NP_001317287.1:p.Ser644Cys |