Linked Data
ClinVar Variation Id:
16551
ClinVar RCV Id:
RCV000018018
dbSNP Id:
rs121913056
gnomAD v2:
1-196659324-T-A
gnomAD v4:
1-196690194-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196690194T>A , CM000663.2:g.196690194T>A | GRCh38 |
| NC_000001.10:g.196659324T>A , CM000663.1:g.196659324T>A | GRCh37 |
| NC_000001.9:g.194925947T>A | NCBI36 |
| NG_007259.1:g.43184T>A , LRG_47:g.43184T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359637.3:c.1099T>A | ENSP00000352658.2:p.Cys367Ser | |
| ENST00000470918.2:n.1557T>A | ||
| ENST00000695968.1:c.1108T>A | ENSP00000512295.1:p.Cys370Ser | |
| ENST00000695969.1:c.1291T>A | ENSP00000512296.1:p.Cys431Ser | |
| ENST00000695970.1:c.1291T>A | ENSP00000512297.1:p.Cys431Ser | |
| ENST00000695971.1:c.1270T>A | ENSP00000512298.1:p.Cys424Ser | |
| ENST00000695972.1:c.1291T>A | ENSP00000512299.1:p.Cys431Ser | |
| ENST00000695973.1:c.1291T>A | ENSP00000512300.1:p.Cys431Ser | |
| ENST00000695974.1:c.1291T>A | ENSP00000512301.1:p.Cys431Ser | |
| ENST00000695975.1:c.1291T>A | ENSP00000512302.1:p.Cys431Ser | |
| ENST00000695976.1:c.1102T>A | ENSP00000512303.1:p.Cys368Ser | |
| ENST00000695977.1:n.132T>A | ||
| ENST00000695978.1:c.1291T>A | ENSP00000512304.1:p.Cys431Ser | |
| ENST00000695979.1:c.1270T>A | ENSP00000512305.1:p.Cys424Ser | |
| ENST00000695980.1:n.1411T>A | ||
| ENST00000695981.1:c.1291T>A | ENSP00000512306.1:p.Cys431Ser | |
| ENST00000695983.1:c.1291T>A | ENSP00000512308.1:p.Cys431Ser | |
| ENST00000695984.1:c.244+17031T>A | ENSP00000512309.1:n.244+17031T>A | |
| ENST00000695986.1:c.*942T>A | ENSP00000512311.1:n.*942T>A | |
| ENST00000695987.1:c.1102T>A | ENSP00000512312.1:p.Cys368Ser | |
| ENST00000696018.1:n.1375T>A | ||
| ENST00000696019.1:n.1375T>A | ||
| ENST00000696020.1:n.1375T>A | ||
| ENST00000696021.1:n.1354T>A | ||
| ENST00000696022.1:n.1375T>A | ||
| ENST00000696023.1:c.1291T>A | ENSP00000512334.1:p.Cys431Ser | |
| ENST00000696024.1:n.1375T>A | ||
| ENST00000696025.1:n.1375T>A | ||
| ENST00000696026.1:c.1291T>A | ENSP00000512335.1:p.Cys431Ser | |
| ENST00000696027.1:c.1291T>A | ENSP00000512336.1:p.Cys431Ser | |
| ENST00000696028.1:c.1291T>A | ENSP00000512337.1:p.Cys431Ser | |
| ENST00000696029.1:c.1291T>A | ENSP00000512338.1:p.Cys431Ser | |
| ENST00000696030.1:c.1216T>A | ENSP00000512339.1:p.Cys406Ser | |
| ENST00000696031.1:c.*809T>A | ENSP00000512340.1:n.*809T>A | |
| ENST00000696032.1:c.1291T>A | ENSP00000512341.1:p.Cys431Ser | |
| ENST00000696033.1:c.1159+580T>A | ENSP00000512342.1:n.1159+580T>A | |
| ENST00000367429.9:c.1291T>A MANE Select | ENSP00000356399.4:p.Cys431Ser | |
| ENST00000359637.2:c.1099T>A | ENSP00000352658.2:p.Cys367Ser | |
| ENST00000367429.8:c.1291T>A | ENSP00000356399.4:p.Cys431Ser | |
| ENST00000466229.5:n.3307T>A | ||
| ENST00000630130.2:c.1291T>A | ENSP00000487250.1:p.Cys431Ser | |
| NM_000186.3:c.1291T>A , LRG_47t1:c.1291T>A | NP_000177.2:p.Cys431Ser | |
| NM_001014975.2:c.1291T>A | NP_001014975.1:p.Cys431Ser | |
| XM_017001108.2:c.1291T>A | XP_016856597.1:p.Cys431Ser | |
| XR_001737134.2:n.1376T>A | ||
| NM_000186.4:c.1291T>A MANE Select | NP_000177.2:p.Cys431Ser | |
| NM_001014975.3:c.1291T>A | NP_001014975.1:p.Cys431Ser |