Linked Data
ClinVar Variation Id:
461726
ClinVar RCV Id:
RCV000560244
dbSNP Id:
rs35637264
ExAC:
11:4112808 C / A
gnomAD v2:
11-4112808-C-A
gnomAD v3:
11-4091578-C-A
gnomAD v4:
11-4091578-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4091578C>A , CM000673.2:g.4091578C>A | GRCh38 |
| NC_000011.9:g.4112808C>A , CM000673.1:g.4112808C>A | GRCh37 |
| NC_000011.8:g.4069384C>A | NCBI36 |
| NG_016277.1:g.240876C>A , LRG_164:g.240876C>A | |
| NG_027992.2:g.1885C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.*252C>A | ENSP00000432210.2:n.*252C>A | |
| ENST00000698910.1:c.1349C>A | ENSP00000514024.1:p.Ser450Tyr | |
| ENST00000698911.1:c.1934C>A | ENSP00000514025.1:p.Ser645Tyr | |
| ENST00000698912.1:c.*252C>A | ENSP00000514026.1:n.*252C>A | |
| ENST00000698913.1:c.1616C>A | ENSP00000514027.1:p.Ser539Tyr | |
| ENST00000698915.1:c.1922C>A | ENSP00000514029.1:p.Ser641Tyr | |
| ENST00000698916.1:c.1859C>A | ENSP00000514030.1:p.Ser620Tyr | |
| ENST00000698918.1:c.*1576C>A | ENSP00000514031.1:n.*1576C>A | |
| ENST00000698919.1:c.*771C>A | ENSP00000514032.1:n.*771C>A | |
| ENST00000698920.1:n.1138C>A | ||
| ENST00000526596.2:c.1931C>A MANE Select | ENSP00000433266.2:p.Ser644Tyr | |
| ENST00000300737.8:c.1838C>A | ENSP00000300737.4:p.Ser613Tyr | |
| ENST00000526156.1:n.636C>A | ||
| ENST00000526596.1:c.1123C>A | ||
| ENST00000527651.5:c.*252C>A | ENSP00000436208.1:n.*252C>A | |
| ENST00000533977.5:c.1319C>A | ENSP00000434767.1:p.Ser440Tyr | |
| ENST00000616714.4:c.2156C>A | ENSP00000478059.1:p.Ser719Tyr | |
| NM_001277961.1:c.2156C>A | NP_001264890.1:p.Ser719Tyr | |
| NM_001277962.1:c.*252C>A | NP_001264891.1:n.*252C>A | |
| NM_003156.3:c.1838C>A , LRG_164t1:c.1838C>A | NP_003147.2:p.Ser613Tyr | |
| NM_001277962.2:c.*252C>A | NP_001264891.1:n.*252C>A | |
| NM_001277961.3:c.2156C>A | NP_001264890.1:p.Ser719Tyr | |
| NM_001382566.1:c.1934C>A | NP_001369495.1:p.Ser645Tyr | |
| NM_001382567.1:c.1931C>A MANE Select | NP_001369496.1:p.Ser644Tyr | |
| NM_001382568.1:c.1859C>A | NP_001369497.1:p.Ser620Tyr | |
| NM_001382569.1:c.1703C>A | NP_001369498.1:p.Ser568Tyr | |
| NM_001382570.1:c.1610C>A | NP_001369499.1:p.Ser537Tyr | |
| NM_001382571.1:c.1358C>A | NP_001369500.1:p.Ser453Tyr | |
| NM_001382575.1:c.1616C>A | NP_001369504.1:p.Ser539Tyr | |
| NM_001382576.1:c.1616C>A | NP_001369505.1:p.Ser539Tyr | |
| NM_001382577.1:c.1616C>A | NP_001369506.1:p.Ser539Tyr | |
| NM_001382578.1:c.*252C>A | NP_001369507.1:n.*252C>A | |
| NM_001382579.1:c.*252C>A | NP_001369508.1:n.*252C>A | |
| NM_001382580.1:c.*252C>A | NP_001369509.1:n.*252C>A | |
| NM_001382581.1:c.1349C>A | NP_001369510.1:p.Ser450Tyr | |
| NM_003156.4:c.1838C>A | NP_003147.2:p.Ser613Tyr | |
| NR_168436.1:n.1762C>A | ||
| NR_168437.1:n.2267C>A | ||
| NR_168438.1:n.2089C>A |