Linked Data
ClinVar Variation Id:
46888
ClinVar RCV Id:
RCV000040158
RCV000172680
RCV000770057
RCV001130091
RCV001130090
RCV001130092
RCV001135119
RCV001135120
RCV001082271
dbSNP Id:
rs72650040
ExAC:
2:179544983 C / G
gnomAD v2:
2-179544983-C-G
gnomAD v3:
2-178680256-C-G
gnomAD v4:
2-178680256-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178680256C>G , CM000664.2:g.178680256C>G | GRCh38 |
| NC_000002.11:g.179544983C>G , CM000664.1:g.179544983C>G | GRCh37 |
| NC_000002.10:g.179253228C>G | NCBI36 |
| NG_011618.3:g.155547G>C , LRG_391:g.155547G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.29684G>C | ENSP00000343764.6:p.Arg9895Thr | |
| ENST00000342175.11:c.13859-37939G>C | ENSP00000340554.6:n.13859-37939G>C | |
| ENST00000359218.10:c.13658-37939G>C | ENSP00000352154.5:n.13658-37939G>C | |
| ENST00000342175.10:c.13859-37939G>C | ENSP00000340554.6:n.13859-37939G>C | |
| ENST00000342992.10:c.29684G>C | ENSP00000343764.6:p.Arg9895Thr | |
| ENST00000359218.9:c.13658-37939G>C | ENSP00000352154.5:n.13658-37939G>C | |
| ENST00000414766.5:c.2014+1405G>C | ENSP00000401501.1:n.2014+1405G>C | |
| ENST00000460472.6:c.13283-37939G>C | ENSP00000434586.1:n.13283-37939G>C | |
| ENST00000589042.5:c.33416G>C MANE Select | ENSP00000467141.1:p.Arg11139Thr | |
| ENST00000591111.5:c.32465G>C | ENSP00000465570.1:p.Arg10822Thr | |
| ENST00000615779.4:c.32465G>C | ENSP00000483597.1:p.Arg10822Thr | |
| NM_001256850.1:c.32465G>C | NP_001243779.1:p.Arg10822Thr | |
| NM_001267550.2:c.33416G>C MANE Select | NP_001254479.2:p.Arg11139Thr | |
| NM_003319.4:c.13283-37939G>C | NP_003310.4:n.13283-37939G>C | |
| NM_133378.4:c.29684G>C | NP_596869.4:p.Arg9895Thr | |
| NM_133432.3:c.13658-37939G>C | NP_597676.3:n.13658-37939G>C | |
| NM_133437.4:c.13859-37939G>C | NP_597681.4:n.13859-37939G>C | |
| XM_011511729.1:c.32513G>C | XP_011510031.1:p.Arg10838Thr | |
| XM_011511730.1:c.13469-37939G>C | XP_011510032.1:n.13469-37939G>C | |
| XM_011511731.1:c.13328-37939G>C | XP_011510033.1:n.13328-37939G>C | |
| XM_017004819.1:c.32468G>C | XP_016860308.1:p.Arg10823Thr | |
| XM_017004820.1:c.29687G>C | XP_016860309.1:p.Arg9896Thr | |
| XM_017004821.1:c.29684G>C | XP_016860310.1:p.Arg9895Thr | |
| XM_017004822.1:c.31432+1405G>C | XP_016860311.1:n.31432+1405G>C | |
| XM_017004823.1:c.13424-37939G>C | XP_016860312.1:n.13424-37939G>C | |
| XM_024453094.1:c.32468G>C | XP_024308862.1:p.Arg10823Thr | |
| XM_024453095.1:c.32468G>C | XP_024308863.1:p.Arg10823Thr | |
| XM_024453096.1:c.32224+1405G>C | XP_024308864.1:n.32224+1405G>C | |
| XM_024453097.1:c.31264+1405G>C | XP_024308865.1:n.31264+1405G>C | |
| XM_024453098.1:c.31183+1405G>C | XP_024308866.1:n.31183+1405G>C | |
| XM_024453099.1:c.13424-37939G>C | XP_024308867.1:n.13424-37939G>C |