Linked Data
ClinVar Variation Id:
38866
ClinVar RCV Id:
RCV000032109
dbSNP Id:
rs202247816
PubMed:
PMID:22593918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100368513C>G , CM000675.2:g.100368513C>G | GRCh38 |
| NC_000013.10:g.101020767C>G , CM000675.1:g.101020767C>G | GRCh37 |
| NC_000013.9:g.99818768C>G | NCBI36 |
| NG_008768.1:g.284431C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376285.6:c.1685C>G MANE Select | ENSP00000365462.1:p.Ser562Ter | |
| ENST00000636366.1:c.945-57120C>G | ||
| ENST00000636475.1:c.1200C>G | ||
| ENST00000637657.1:c.1345C>G | ||
| ENST00000647303.1:c.*1169C>G | ENSP00000495663.1:n.*1169C>G | |
| ENST00000376279.7:c.1685C>G | ENSP00000365456.3:p.Ser562Ter | |
| ENST00000376285.5:c.1685C>G | ENSP00000365462.1:p.Ser562Ter | |
| ENST00000376286.8:c.1607C>G | ENSP00000365463.4:p.Ser536Ter | |
| ENST00000413170.1:c.15C>G | ||
| ENST00000424527.5:c.287C>G | ENSP00000396050.1:p.Ser96Ter | |
| ENST00000458283.5:c.42C>G | ||
| NM_000282.3:c.1685C>G | NP_000273.2:p.Ser562Ter | |
| NM_001127692.2:c.1607C>G | NP_001121164.1:p.Ser536Ter | |
| NM_001178004.1:c.1685C>G | NP_001171475.1:p.Ser562Ter | |
| XM_005254059.2:c.1685C>G | XP_005254116.1:p.Ser562Ter | |
| XM_011521093.1:c.1685C>G | XP_011519395.1:p.Ser562Ter | |
| XR_931615.1:n.1744+28254C>G | ||
| NM_001352605.1:c.1685C>G | NP_001339534.1:p.Ser562Ter | |
| NM_001352606.1:c.1541C>G | NP_001339535.1:p.Ser514Ter | |
| NM_001352607.1:c.1607C>G | NP_001339536.1:p.Ser536Ter | |
| NM_001352608.1:c.1463C>G | NP_001339537.1:p.Ser488Ter | |
| NM_001352609.1:c.1685C>G | NP_001339538.1:p.Ser562Ter | |
| NM_001352610.1:c.740C>G | NP_001339539.1:p.Ser247Ter | |
| NM_001352611.1:c.740C>G | NP_001339540.1:p.Ser247Ter | |
| NM_001352612.1:c.596C>G | NP_001339541.1:p.Ser199Ter | |
| NR_148027.1:n.1875C>G | ||
| NR_148028.1:n.1833+28254C>G | ||
| NR_148029.1:n.1755+28254C>G | ||
| NR_148030.1:n.1875C>G | ||
| NR_148031.1:n.1749+28254C>G | ||
| XM_017020605.1:c.1685C>G | XP_016876094.1:p.Ser562Ter | |
| XM_017020606.1:c.1607C>G | XP_016876095.1:p.Ser536Ter | |
| XM_017020607.1:c.1586C>G | XP_016876096.1:p.Ser529Ter | |
| XM_017020609.1:c.1586C>G | XP_016876098.1:p.Ser529Ter | |
| XM_017020611.1:c.1685C>G | XP_016876100.1:p.Ser562Ter | |
| XM_017020612.1:c.1685C>G | XP_016876101.1:p.Ser562Ter | |
| XM_017020613.1:c.1685C>G | XP_016876102.1:p.Ser562Ter | |
| XM_017020615.1:c.1685C>G | XP_016876104.1:p.Ser562Ter | |
| XR_001749567.1:n.1786C>G | ||
| XR_001749568.1:n.1786C>G | ||
| XR_001749569.1:n.1786C>G | ||
| XR_001749574.1:n.1721C>G | ||
| XR_001749576.1:n.1422C>G | ||
| XR_001749577.1:n.1380+28254C>G | ||
| NM_000282.4:c.1685C>G MANE Select | NP_000273.2:p.Ser562Ter | |
| NM_001352605.2:c.1685C>G | NP_001339534.1:p.Ser562Ter | |
| NM_001352606.2:c.1541C>G | NP_001339535.1:p.Ser514Ter | |
| NM_001352607.2:c.1607C>G | NP_001339536.1:p.Ser536Ter | |
| NM_001352608.2:c.1463C>G | NP_001339537.1:p.Ser488Ter | |
| NM_001352609.2:c.1685C>G | NP_001339538.1:p.Ser562Ter | |
| NM_001352610.2:c.740C>G | NP_001339539.1:p.Ser247Ter | |
| NM_001352611.2:c.740C>G | NP_001339540.1:p.Ser247Ter | |
| NM_001352612.2:c.596C>G | NP_001339541.1:p.Ser199Ter | |
| NR_148027.2:n.1797C>G | ||
| NR_148028.2:n.1755+28254C>G | ||
| NR_148029.2:n.1677+28254C>G | ||
| NR_148030.2:n.1797C>G | ||
| NR_148031.2:n.1671+28254C>G | ||
| NM_001127692.3:c.1607C>G | NP_001121164.1:p.Ser536Ter | |
| NM_001178004.2:c.1685C>G | NP_001171475.1:p.Ser562Ter |