Linked Data
ClinVar Variation Id:
2652
dbSNP Id:
rs119455952
ExAC:
1:170521277 C / T
gnomAD v2:
1-170521277-C-T
gnomAD v4:
1-170552136-C-T
COSMIC:
COSM5742772
PubMed:
PMID:18997784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.170552136C>T , CM000663.2:g.170552136C>T | GRCh38 |
| NC_000001.10:g.170521277C>T , CM000663.1:g.170521277C>T | GRCh37 |
| NC_000001.9:g.168787901C>T | NCBI36 |
| NG_012237.1:g.25015C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685515.1:c.*648C>T | ENSP00000509073.1:n.*648C>T | |
| ENST00000686021.1:n.899C>T | ||
| ENST00000686870.1:c.*302C>T | ENSP00000510121.1:n.*302C>T | |
| ENST00000687370.1:n.3800C>T | ||
| ENST00000687880.1:c.*782C>T | ENSP00000508486.1:n.*782C>T | |
| ENST00000688499.1:c.*652C>T | ENSP00000509581.1:n.*652C>T | |
| ENST00000688688.1:c.733C>T | ENSP00000510426.1:p.Arg245Ter | |
| ENST00000689173.1:c.*782C>T | ENSP00000509341.1:n.*782C>T | |
| ENST00000690124.1:n.948C>T | ||
| ENST00000690898.1:n.977C>T | ||
| ENST00000691051.1:n.1523C>T | ||
| ENST00000691199.1:n.555C>T | ||
| ENST00000691235.1:n.503C>T | ||
| ENST00000692855.1:n.939C>T | ||
| ENST00000692875.1:c.*302C>T | ENSP00000508785.1:n.*302C>T | |
| ENST00000693373.1:n.776C>T | ||
| ENST00000367763.8:c.784C>T MANE Select | ENSP00000356737.4:p.Arg262Ter | |
| ENST00000498166.6:c.*778C>T | ENSP00000473336.2:n.*778C>T | |
| ENST00000367763.7:c.859C>T | ENSP00000356737.3:p.Arg287Ter | |
| ENST00000475113.1:n.328C>T | ||
| ENST00000498166.5:c.1157C>T | ||
| ENST00000498600.2:n.875C>T | ||
| NM_152281.2:c.859C>T | NP_689494.2:p.Arg287Ter | |
| NR_027397.1:n.890C>T | ||
| XM_006711628.2:c.319C>T | XP_006711691.1:p.Arg107Ter | |
| XM_006711629.2:c.319C>T | XP_006711692.1:p.Arg107Ter | |
| XM_011510149.1:c.808C>T | XP_011508451.1:p.Arg270Ter | |
| XM_011510150.1:c.319C>T | XP_011508452.1:p.Arg107Ter | |
| XM_011510151.1:c.319C>T | XP_011508453.1:p.Arg107Ter | |
| NM_001320252.1:c.319C>T | NP_001307181.1:p.Arg107Ter | |
| XM_006711628.4:c.319C>T | XP_006711691.1:p.Arg107Ter | |
| XM_011510149.2:c.808C>T | XP_011508451.1:p.Arg270Ter | |
| XM_011510150.3:c.319C>T | XP_011508452.1:p.Arg107Ter | |
| XM_017002807.1:c.319C>T | XP_016858296.1:p.Arg107Ter | |
| XM_024450864.1:c.319C>T | XP_024306632.1:p.Arg107Ter | |
| NM_001320252.2:c.319C>T | NP_001307181.1:p.Arg107Ter | |
| NM_152281.3:c.784C>T MANE Select | NP_689494.3:p.Arg262Ter | |
| NR_027397.2:n.846C>T |