Linked Data
ClinVar Variation Id:
390585
dbSNP Id:
rs767174517
ExAC:
2:73828557 C / G
gnomAD v2:
2-73828557-C-G
gnomAD v3:
2-73601430-C-G
gnomAD v4:
2-73601430-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601430C>G , CM000664.2:g.73601430C>G | GRCh38 |
| NC_000002.11:g.73828557C>G , CM000664.1:g.73828557C>G | GRCh37 |
| NC_000002.10:g.73682065C>G | NCBI36 |
| NG_011690.1:g.220678C>G , LRG_741:g.220678C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11727C>G | ENSP00000507671.1:p.Thr3909= | |
| ENST00000682801.1:c.11167-755C>G | ENSP00000507862.1:n.11167-755C>G | |
| ENST00000682859.1:c.11727C>G | ENSP00000508222.1:p.Thr3909= | |
| ENST00000683791.1:c.4813C>G | ||
| ENST00000684460.1:c.9008C>G | ||
| ENST00000684548.1:c.11727C>G | ENSP00000507421.1:p.Thr3909= | |
| ENST00000684590.1:c.6174C>G | ENSP00000507376.1:p.Thr2058= | |
| ENST00000684656.1:c.9192C>G | ||
| ENST00000613296.6:c.12108C>G MANE Select | ENSP00000482968.1:p.Thr4036= | |
| ENST00000651057.1:c.2262C>G | ENSP00000498504.1:p.Thr754= | |
| ENST00000651434.1:c.3464C>G | ||
| ENST00000651750.1:c.1260+549C>G | ||
| ENST00000652487.1:c.3279C>G | ||
| ENST00000464408.3:n.283C>G | ||
| ENST00000484298.5:c.11982C>G | ENSP00000478155.1:p.Thr3994= | |
| ENST00000613296.4:c.12108C>G | ENSP00000482968.1:p.Thr4036= | |
| ENST00000620466.4:n.5911C>G | ||
| NM_015120.4:c.12111C>G , LRG_741t1:c.12111C>G | NP_055935.4:p.Thr4037= | |
| NM_001378454.1:c.12108C>G MANE Select | NP_001365383.1:p.Thr4036= |