Linked Data
ClinVar Variation Id:
2070
ClinVar RCV Id:
RCV000002151
dbSNP Id:
rs137852781
PubMed:
PMID:18505993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52454254C>T , CM000668.2:g.52454254C>T | GRCh38 |
| NC_000006.11:g.52319052C>T , CM000668.1:g.52319052C>T | GRCh37 |
| NC_000006.10:g.52427011C>T | NCBI36 |
| NG_016760.1:g.39059C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371068.11:c.883C>T MANE Select | ENSP00000360107.4:p.Gln295Ter | |
| ENST00000480623.6:c.883C>T | ENSP00000434498.2:p.Gln295Ter | |
| ENST00000635760.1:c.559C>T | ENSP00000489765.1:p.Gln187Ter | |
| ENST00000635812.1:c.*184C>T | ENSP00000490859.1:n.*184C>T | |
| ENST00000635866.1:c.*752C>T | ENSP00000489866.1:n.*752C>T | |
| ENST00000635911.1:n.2401C>T | ||
| ENST00000635984.1:c.559C>T | ENSP00000489921.1:p.Gln187Ter | |
| ENST00000635996.1:c.883C>T | ENSP00000490256.1:p.Gln295Ter | |
| ENST00000636107.1:c.883C>T | ENSP00000489680.1:p.Gln295Ter | |
| ENST00000636311.1:n.777C>T | ||
| ENST00000636343.1:c.549C>T | ||
| ENST00000636379.1:c.595C>T | ENSP00000490622.1:p.Gln199Ter | |
| ENST00000636398.1:c.583C>T | ENSP00000489654.1:n.583C>T | |
| ENST00000636489.1:c.826C>T | ENSP00000489998.1:p.Gln276Ter | |
| ENST00000636616.1:n.499C>T | ||
| ENST00000636702.1:c.853C>T | ENSP00000489623.1:p.Gln285Ter | |
| ENST00000636954.1:c.826C>T | ENSP00000489966.1:p.Gln276Ter | |
| ENST00000637089.1:c.883C>T | ENSP00000489854.1:p.Gln295Ter | |
| ENST00000637263.1:c.883C>T | ENSP00000489700.1:p.Gln295Ter | |
| ENST00000637340.1:n.2808C>T | ||
| ENST00000637353.1:c.883C>T | ENSP00000490441.1:p.Gln295Ter | |
| ENST00000637602.1:c.*584C>T | ENSP00000490074.1:n.*584C>T | |
| ENST00000637849.1:n.947C>T | ||
| ENST00000637874.1:c.49C>T | ENSP00000490348.1:p.Gln17Ter | |
| ENST00000637892.1:n.1087C>T | ||
| ENST00000371068.9:c.883C>T | ENSP00000360107.4:p.Gln295Ter | |
| ENST00000480623.5:c.*1303C>T | ENSP00000434498.1:n.*1303C>T | |
| ENST00000538167.2:c.826C>T | ENSP00000444521.1:p.Gln276Ter | |
| NM_001172420.1:c.826C>T | NP_001165891.1:p.Gln276Ter | |
| NM_018100.3:c.883C>T | NP_060570.2:p.Gln295Ter | |
| NR_033327.1:n.2355C>T | ||
| NM_018100.4:c.883C>T MANE Select | NP_060570.2:p.Gln295Ter | |
| NM_001172420.2:c.826C>T | NP_001165891.1:p.Gln276Ter | |
| NR_033327.2:n.2209C>T |