Linked Data
ClinVar Variation Id:
16563
ClinVar RCV Id:
RCV000018031
dbSNP Id:
rs121913063
PubMed:
PMID:18268093
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747209G>T , CM000663.2:g.196747209G>T | GRCh38 |
| NC_000001.10:g.196716339G>T , CM000663.1:g.196716339G>T | GRCh37 |
| NC_000001.9:g.194982962G>T | NCBI36 |
| NG_007259.1:g.100199G>T , LRG_47:g.100199G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4620G>T | ||
| ENST00000695970.1:c.3418G>T | ENSP00000512297.1:p.Glu1140Ter | |
| ENST00000695971.1:c.3571G>T | ENSP00000512298.1:p.Glu1191Ter | |
| ENST00000695972.1:c.*669G>T | ENSP00000512299.1:n.*669G>T | |
| ENST00000695973.1:c.*1956G>T | ENSP00000512300.1:n.*1956G>T | |
| ENST00000695974.1:c.3415G>T | ENSP00000512301.1:p.Glu1139Ter | |
| ENST00000695975.1:c.*1719G>T | ENSP00000512302.1:n.*1719G>T | |
| ENST00000695976.1:c.3403G>T | ENSP00000512303.1:p.Glu1135Ter | |
| ENST00000695981.1:c.3580+12G>T | ENSP00000512306.1:n.3580+12G>T | |
| ENST00000695984.1:c.1600G>T | ENSP00000512309.1:p.Glu534Ter | |
| ENST00000695986.1:c.*3243G>T | ENSP00000512311.1:n.*3243G>T | |
| ENST00000695990.1:n.626G>T | ||
| ENST00000696026.1:c.*1874G>T | ENSP00000512335.1:n.*1874G>T | |
| ENST00000696027.1:c.3586G>T | ENSP00000512336.1:p.Glu1196Ter | |
| ENST00000696028.1:c.3520G>T | ENSP00000512337.1:p.Glu1174Ter | |
| ENST00000696029.1:c.3586G>T | ENSP00000512338.1:p.Glu1196Ter | |
| ENST00000696031.1:c.*3110G>T | ENSP00000512340.1:n.*3110G>T | |
| ENST00000696032.1:c.3580+12G>T | ENSP00000512341.1:n.3580+12G>T | |
| ENST00000696033.1:c.1160-32588G>T | ENSP00000512342.1:n.1160-32588G>T | |
| ENST00000367429.9:c.3592G>T MANE Select | ENSP00000356399.4:p.Glu1198Ter | |
| ENST00000367429.8:c.3592G>T | ENSP00000356399.4:p.Glu1198Ter | |
| ENST00000466229.5:n.6690G>T | ||
| NM_000186.3:c.3592G>T , LRG_47t1:c.3592G>T | NP_000177.2:p.Glu1198Ter | |
| XR_001737134.2:n.3778G>T | ||
| NM_000186.4:c.3592G>T MANE Select | NP_000177.2:p.Glu1198Ter |