Linked Data
ClinVar Variation Id:
191988
dbSNP Id:
rs199868380
ExAC:
2:179529653 G / C
gnomAD v2:
2-179529653-G-C
gnomAD v3:
2-178664926-G-C
gnomAD v4:
2-178664926-G-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178664926G>C , CM000664.2:g.178664926G>C | GRCh38 |
| NC_000002.11:g.179529653G>C , CM000664.1:g.179529653G>C | GRCh37 |
| NC_000002.10:g.179237898G>C | NCBI36 |
| NG_011618.3:g.170877C>G , LRG_391:g.170877C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.31484-1871C>G | ENSP00000343764.6:n.31484-1871C>G | |
| ENST00000342175.11:c.13859-22609C>G | ENSP00000340554.6:n.13859-22609C>G | |
| ENST00000359218.10:c.13658-22609C>G | ENSP00000352154.5:n.13658-22609C>G | |
| ENST00000342175.10:c.13859-22609C>G | ENSP00000340554.6:n.13859-22609C>G | |
| ENST00000342992.10:c.31484-1871C>G | ENSP00000343764.6:n.31484-1871C>G | |
| ENST00000359218.9:c.13658-22609C>G | ENSP00000352154.5:n.13658-22609C>G | |
| ENST00000414766.5:c.2440+8707C>G | ENSP00000401501.1:n.2440+8707C>G | |
| ENST00000425332.2:c.235C>G | ||
| ENST00000460472.6:c.13283-22609C>G | ENSP00000434586.1:n.13283-22609C>G | |
| ENST00000589042.5:c.36044C>G MANE Select | ENSP00000467141.1:p.Thr12015Arg | |
| ENST00000591111.5:c.34264+5292C>G | ENSP00000465570.1:n.34264+5292C>G | |
| ENST00000615779.4:c.34265-1871C>G | ENSP00000483597.1:n.34265-1871C>G | |
| NM_001256850.1:c.34265-1871C>G | NP_001243779.1:n.34265-1871C>G | |
| NM_001267550.2:c.36044C>G MANE Select | NP_001254479.2:p.Thr12015Arg | |
| NM_003319.4:c.13283-22609C>G | NP_003310.4:n.13283-22609C>G | |
| NM_133378.4:c.31484-1871C>G | NP_596869.4:n.31484-1871C>G | |
| NM_133432.3:c.13658-22609C>G | NP_597676.3:n.13658-22609C>G | |
| NM_133437.4:c.13859-22609C>G | NP_597681.4:n.13859-22609C>G | |
| XM_011511729.1:c.35141C>G | XP_011510031.1:p.Thr11714Arg | |
| XM_011511730.1:c.13469-22609C>G | XP_011510032.1:n.13469-22609C>G | |
| XM_011511731.1:c.13328-22609C>G | XP_011510033.1:n.13328-22609C>G | |
| XM_017004819.1:c.34937C>G | XP_016860308.1:p.Thr11646Arg | |
| XM_017004820.1:c.31487-1871C>G | XP_016860309.1:n.31487-1871C>G | |
| XM_017004821.1:c.31484-1871C>G | XP_016860310.1:n.31484-1871C>G | |
| XM_017004822.1:c.31858+8707C>G | XP_016860311.1:n.31858+8707C>G | |
| XM_017004823.1:c.13424-22609C>G | XP_016860312.1:n.13424-22609C>G | |
| XM_024453094.1:c.33299-1871C>G | XP_024308862.1:n.33299-1871C>G | |
| XM_024453095.1:c.33296-1871C>G | XP_024308863.1:n.33296-1871C>G | |
| XM_024453096.1:c.32729-1871C>G | XP_024308864.1:n.32729-1871C>G | |
| XM_024453097.1:c.31690+8707C>G | XP_024308865.1:n.31690+8707C>G | |
| XM_024453098.1:c.31609+8707C>G | XP_024308866.1:n.31609+8707C>G | |
| XM_024453099.1:c.13424-22609C>G | XP_024308867.1:n.13424-22609C>G |