Linked Data
ClinVar Variation Id:
180569
ClinVar RCV Id:
RCV000157556
RCV000172379
RCV000222353
RCV000265600
RCV000377872
RCV000322987
RCV000379882
RCV000335757
RCV000476275
dbSNP Id:
rs199557654
ExAC:
2:179578012 T / C
gnomAD v2:
2-179578012-T-C
gnomAD v3:
2-178713285-T-C
gnomAD v4:
2-178713285-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178713285T>C , CM000664.2:g.178713285T>C | GRCh38 |
| NC_000002.11:g.179578012T>C , CM000664.1:g.179578012T>C | GRCh37 |
| NC_000002.10:g.179286257T>C | NCBI36 |
| NG_011618.3:g.122518A>G , LRG_391:g.122518A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.23117A>G | ENSP00000343764.6:p.Tyr7706Cys | |
| ENST00000342175.11:c.13858+24797A>G | ENSP00000340554.6:n.13858+24797A>G | |
| ENST00000359218.10:c.13657+24797A>G | ENSP00000352154.5:n.13657+24797A>G | |
| ENST00000342175.10:c.13858+24797A>G | ENSP00000340554.6:n.13858+24797A>G | |
| ENST00000342992.10:c.23117A>G | ENSP00000343764.6:p.Tyr7706Cys | |
| ENST00000359218.9:c.13657+24797A>G | ENSP00000352154.5:n.13657+24797A>G | |
| ENST00000460472.6:c.13282+24797A>G | ENSP00000434586.1:n.13282+24797A>G | |
| ENST00000589042.5:c.26849A>G MANE Select | ENSP00000467141.1:p.Tyr8950Cys | |
| ENST00000591111.5:c.25898A>G | ENSP00000465570.1:p.Tyr8633Cys | |
| ENST00000615779.4:c.25898A>G | ENSP00000483597.1:p.Tyr8633Cys | |
| NM_001256850.1:c.25898A>G | NP_001243779.1:p.Tyr8633Cys | |
| NM_001267550.2:c.26849A>G MANE Select | NP_001254479.2:p.Tyr8950Cys | |
| NM_003319.4:c.13282+24797A>G | NP_003310.4:n.13282+24797A>G | |
| NM_133378.4:c.23117A>G | NP_596869.4:p.Tyr7706Cys | |
| NM_133432.3:c.13657+24797A>G | NP_597676.3:n.13657+24797A>G | |
| NM_133437.4:c.13858+24797A>G | NP_597681.4:n.13858+24797A>G | |
| XM_011511729.1:c.25946A>G | XP_011510031.1:p.Tyr8649Cys | |
| XM_011511730.1:c.13468+24797A>G | XP_011510032.1:n.13468+24797A>G | |
| XM_011511731.1:c.13327+24797A>G | XP_011510033.1:n.13327+24797A>G | |
| XM_017004819.1:c.25901A>G | XP_016860308.1:p.Tyr8634Cys | |
| XM_017004820.1:c.23120A>G | XP_016860309.1:p.Tyr7707Cys | |
| XM_017004821.1:c.23117A>G | XP_016860310.1:p.Tyr7706Cys | |
| XM_017004822.1:c.25901A>G | XP_016860311.1:p.Tyr8634Cys | |
| XM_017004823.1:c.13423+24797A>G | XP_016860312.1:n.13423+24797A>G | |
| XM_024453094.1:c.25901A>G | XP_024308862.1:p.Tyr8634Cys | |
| XM_024453095.1:c.25901A>G | XP_024308863.1:p.Tyr8634Cys | |
| XM_024453096.1:c.25901A>G | XP_024308864.1:p.Tyr8634Cys | |
| XM_024453097.1:c.25901A>G | XP_024308865.1:p.Tyr8634Cys | |
| XM_024453098.1:c.25901A>G | XP_024308866.1:p.Tyr8634Cys | |
| XM_024453099.1:c.13423+24797A>G | XP_024308867.1:n.13423+24797A>G |