Linked Data
ClinVar Variation Id:
499778
dbSNP Id:
rs189914793
ExAC:
2:73677029 A / G
gnomAD v2:
2-73677029-A-G
gnomAD v3:
2-73449902-A-G
gnomAD v4:
2-73449902-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73449902A>G , CM000664.2:g.73449902A>G | GRCh38 |
| NC_000002.11:g.73677029A>G , CM000664.1:g.73677029A>G | GRCh37 |
| NC_000002.10:g.73530537A>G | NCBI36 |
| NG_011690.1:g.69150A>G , LRG_741:g.69150A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.2994A>G | ENSP00000507671.1:p.Val998= | |
| ENST00000682801.1:c.2994A>G | ENSP00000507862.1:p.Val998= | |
| ENST00000682859.1:c.2994A>G | ENSP00000508222.1:p.Val998= | |
| ENST00000683791.1:c.685+17611A>G | ||
| ENST00000684460.1:c.446A>G | ||
| ENST00000684548.1:c.2994A>G | ENSP00000507421.1:p.Val998= | |
| ENST00000684656.1:c.446A>G | ||
| ENST00000613296.6:c.3375A>G MANE Select | ENSP00000482968.1:p.Val1125= | |
| ENST00000484298.5:c.3249A>G | ENSP00000478155.1:p.Val1083= | |
| ENST00000613296.4:c.3375A>G | ENSP00000482968.1:p.Val1125= | |
| ENST00000614410.4:c.3375A>G | ENSP00000479094.1:p.Val1125= | |
| NM_015120.4:c.3378A>G , LRG_741t1:c.3378A>G | NP_055935.4:p.Val1126= | |
| NM_001378454.1:c.3375A>G MANE Select | NP_001365383.1:p.Val1125= |