Linked Data
ClinVar Variation Id:
30827
ClinVar RCV Id:
RCV000023812
dbSNP Id:
rs387907024
PubMed:
PMID:22284826
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141615564C>T , CM000669.2:g.141615564C>T | GRCh38 |
| NC_000007.13:g.141315364C>T , CM000669.1:g.141315364C>T | GRCh37 |
| NC_000007.12:g.140961833C>T | NCBI36 |
| NG_032079.1:g.69287C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647568.1:c.*480C>T | ENSP00000497039.1:n.*480C>T | |
| ENST00000647898.1:n.407C>T | ||
| ENST00000648068.1:c.517C>T | ENSP00000498112.1:p.Gln173Ter | |
| ENST00000648395.1:c.241C>T | ENSP00000497666.1:p.Gln81Ter | |
| ENST00000648489.1:n.548C>T | ||
| ENST00000648690.1:c.241C>T | ENSP00000497945.1:p.Gln81Ter | |
| ENST00000649014.1:c.517C>T | ENSP00000497984.1:p.Gln173Ter | |
| ENST00000649286.2:c.517C>T MANE Select | ENSP00000497280.1:p.Gln173Ter | |
| ENST00000649365.1:c.*525C>T | ENSP00000496835.1:n.*525C>T | |
| ENST00000649538.1:n.545C>T | ||
| ENST00000649790.1:c.241C>T | ENSP00000498193.1:p.Gln81Ter | |
| ENST00000649914.1:c.505C>T | ENSP00000497848.1:p.Gln169Ter | |
| ENST00000650006.1:c.517C>T | ENSP00000497457.1:p.Gln173Ter | |
| ENST00000650365.1:c.*402C>T | ENSP00000497358.1:n.*402C>T | |
| ENST00000650547.1:c.517C>T | ENSP00000496789.1:p.Gln173Ter | |
| ENST00000355413.8:c.517C>T | ENSP00000347581.4:p.Gln173Ter | |
| ENST00000465241.5:n.528C>T | ||
| ENST00000473247.5:c.433C>T | ENSP00000420776.1:p.Gln145Ter | |
| ENST00000473884.5:c.*336C>T | ENSP00000420540.1:n.*336C>T | |
| ENST00000494688.1:c.508C>T | ENSP00000418101.1:p.Gln170Ter | |
| ENST00000496273.1:n.280C>T | ||
| ENST00000629555.2:c.508C>T | ENSP00000487274.1:p.Gln170Ter | |
| NM_018238.3:c.517C>T | NP_060708.1:p.Gln173Ter | |
| XM_005250023.3:c.517C>T | XP_005250080.1:p.Gln173Ter | |
| XM_011516397.1:c.517C>T | XP_011514699.1:p.Gln173Ter | |
| NM_001364948.1:c.517C>T | NP_001351877.1:p.Gln173Ter | |
| NM_018238.4:c.517C>T MANE Select | NP_060708.1:p.Gln173Ter | |
| XM_011516397.3:c.517C>T | XP_011514699.1:p.Gln173Ter | |
| XM_024446835.1:c.517C>T | XP_024302603.1:p.Gln173Ter | |
| NM_001364948.2:c.517C>T | NP_001351877.1:p.Gln173Ter | |
| NM_001364948.3:c.517C>T | NP_001351877.1:p.Gln173Ter |