Linked Data
ClinVar Variation Id:
100775
ClinVar RCV Id:
RCV000087139
dbSNP Id:
rs587777158
PubMed:
PMID:24239381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.445095G>A , CM000682.2:g.445095G>A | GRCh38 |
| NC_000020.10:g.425739G>A , CM000682.1:g.425739G>A | GRCh37 |
| NC_000020.9:g.373739G>A | NCBI36 |
| NG_034082.1:g.22459C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354200.5:c.292C>T MANE Select | ENSP00000346139.4:p.Gln98Ter | |
| ENST00000461188.6:n.212+2794C>T | ||
| ENST00000679451.1:n.391C>T | ||
| ENST00000679741.1:c.292C>T | ENSP00000504904.1:p.Gln98Ter | |
| ENST00000679895.1:c.292C>T | ENSP00000505197.1:p.Gln98Ter | |
| ENST00000679944.1:c.292C>T | ENSP00000506278.1:p.Gln98Ter | |
| ENST00000679953.1:n.391C>T | ||
| ENST00000679973.1:c.292C>T | ENSP00000506502.1:p.Gln98Ter | |
| ENST00000680050.1:c.106C>T | ENSP00000505464.1:p.Gln36Ter | |
| ENST00000680088.1:n.437C>T | ||
| ENST00000680106.1:c.292C>T | ENSP00000505500.1:p.Gln98Ter | |
| ENST00000680284.1:c.292C>T | ENSP00000506231.1:p.Gln98Ter | |
| ENST00000680491.1:n.418C>T | ||
| ENST00000680515.1:c.106C>T | ENSP00000506650.1:p.Gln36Ter | |
| ENST00000680521.1:n.391C>T | ||
| ENST00000680792.1:c.292C>T | ENSP00000506012.1:p.Gln98Ter | |
| ENST00000680911.1:c.292C>T | ENSP00000506556.1:p.Gln98Ter | |
| ENST00000680990.1:c.292C>T | ENSP00000506050.1:p.Gln98Ter | |
| ENST00000681129.1:c.106C>T | ENSP00000505329.1:p.Gln36Ter | |
| ENST00000681389.1:n.426C>T | ||
| ENST00000681414.1:c.256+2794C>T | ENSP00000505797.1:n.256+2794C>T | |
| ENST00000681441.1:c.292C>T | ENSP00000504992.1:p.Gln98Ter | |
| ENST00000681539.1:c.292C>T | ENSP00000505557.1:p.Gln98Ter | |
| ENST00000681551.1:c.292C>T | ENSP00000504974.1:p.Gln98Ter | |
| ENST00000681636.1:c.292C>T | ENSP00000506155.1:p.Gln98Ter | |
| ENST00000681742.1:c.292C>T | ENSP00000506122.1:p.Gln98Ter | |
| ENST00000681777.1:c.292C>T | ENSP00000506511.1:p.Gln98Ter | |
| ENST00000354200.4:c.292C>T | ENSP00000346139.4:p.Gln98Ter | |
| ENST00000461304.5:c.292C>T | ENSP00000432280.1:p.Gln98Ter | |
| ENST00000494633.1:n.430C>T | ||
| NM_144628.3:c.292C>T | NP_653229.1:p.Gln98Ter | |
| NR_111901.1:n.440C>T | ||
| XM_005260661.1:c.292C>T | XP_005260718.1:p.Gln98Ter | |
| XM_006723540.2:c.106C>T | XP_006723603.1:p.Gln36Ter | |
| XM_006723540.3:c.106C>T | XP_006723603.1:p.Gln36Ter | |
| XM_017027645.1:c.106C>T | XP_016883134.1:p.Gln36Ter | |
| NM_144628.4:c.292C>T MANE Select | NP_653229.1:p.Gln98Ter | |
| NR_111901.2:n.420C>T |