Linked Data
ClinVar Variation Id:
241013
dbSNP Id:
rs137932254
ExAC:
2:73717531 A / G
gnomAD v2:
2-73717531-A-G
gnomAD v3:
2-73490404-A-G
gnomAD v4:
2-73490404-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490404A>G , CM000664.2:g.73490404A>G | GRCh38 |
| NC_000002.11:g.73717531A>G , CM000664.1:g.73717531A>G | GRCh37 |
| NC_000002.10:g.73571039A>G | NCBI36 |
| NG_011690.1:g.109652A>G , LRG_741:g.109652A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.8064A>G | ENSP00000507671.1:p.Ser2688= | |
| ENST00000682801.1:c.8064A>G | ENSP00000507862.1:p.Ser2688= | |
| ENST00000682859.1:c.8064A>G | ENSP00000508222.1:p.Ser2688= | |
| ENST00000683791.1:c.1456A>G | ||
| ENST00000684460.1:c.5516A>G | ||
| ENST00000684548.1:c.8064A>G | ENSP00000507421.1:p.Ser2688= | |
| ENST00000684590.1:c.2511A>G | ENSP00000507376.1:p.Ser837= | |
| ENST00000684656.1:c.5516A>G | ||
| ENST00000613296.6:c.8445A>G MANE Select | ENSP00000482968.1:p.Ser2815= | |
| ENST00000651434.1:c.896-29371A>G | ||
| ENST00000423048.5:c.3030+246A>G | ENSP00000399833.1:n.3030+246A>G | |
| ENST00000484298.5:c.8319A>G | ENSP00000478155.1:p.Ser2773= | |
| ENST00000613296.4:c.8445A>G | ENSP00000482968.1:p.Ser2815= | |
| ENST00000614410.4:c.8445A>G | ENSP00000479094.1:p.Ser2815= | |
| ENST00000620466.4:n.2248A>G | ||
| NM_015120.4:c.8448A>G , LRG_741t1:c.8448A>G | NP_055935.4:p.Ser2816= | |
| NM_001378454.1:c.8445A>G MANE Select | NP_001365383.1:p.Ser2815= |