Linked Data
ClinVar Variation Id:
449854
dbSNP Id:
rs200467041
ExAC:
2:73799778 A / G
gnomAD v2:
2-73799778-A-G
gnomAD v3:
2-73572651-A-G
gnomAD v4:
2-73572651-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572651A>G , CM000664.2:g.73572651A>G | GRCh38 |
| NC_000002.11:g.73799778A>G , CM000664.1:g.73799778A>G | GRCh37 |
| NC_000002.10:g.73653286A>G | NCBI36 |
| NG_011690.1:g.191899A>G , LRG_741:g.191899A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10393A>G | ENSP00000507671.1:p.Thr3465Ala | |
| ENST00000682801.1:c.10393A>G | ENSP00000507862.1:p.Thr3465Ala | |
| ENST00000682859.1:c.10393A>G | ENSP00000508222.1:p.Thr3465Ala | |
| ENST00000683791.1:c.3479A>G | ||
| ENST00000684460.1:c.7674A>G | ||
| ENST00000684548.1:c.10393A>G | ENSP00000507421.1:p.Thr3465Ala | |
| ENST00000684590.1:c.4840A>G | ENSP00000507376.1:p.Thr1614Ala | |
| ENST00000684656.1:c.7719A>G | ||
| ENST00000613296.6:c.10774A>G MANE Select | ENSP00000482968.1:p.Thr3592Ala | |
| ENST00000651057.1:c.928A>G | ENSP00000498504.1:p.Thr310Ala | |
| ENST00000651434.1:c.2130A>G | ||
| ENST00000651750.1:c.162A>G | ||
| ENST00000652487.1:c.1871A>G | ||
| ENST00000423048.5:c.4265A>G | ENSP00000399833.1:n.4265A>G | |
| ENST00000484298.5:c.10648A>G | ENSP00000478155.1:p.Thr3550Ala | |
| ENST00000613296.4:c.10774A>G | ENSP00000482968.1:p.Thr3592Ala | |
| ENST00000614410.4:c.10774A>G | ENSP00000479094.1:p.Thr3592Ala | |
| ENST00000620466.4:n.4577A>G | ||
| NM_015120.4:c.10777A>G , LRG_741t1:c.10777A>G | NP_055935.4:p.Thr3593Ala | |
| NM_001378454.1:c.10774A>G MANE Select | NP_001365383.1:p.Thr3592Ala |