Linked Data
ClinVar Variation Id:
1143185
dbSNP Id:
rs998039859
gnomAD v2:
2-73828503-A-G
gnomAD v3:
2-73601376-A-G
gnomAD v4:
2-73601376-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601376A>G , CM000664.2:g.73601376A>G | GRCh38 |
| NC_000002.11:g.73828503A>G , CM000664.1:g.73828503A>G | GRCh37 |
| NC_000002.10:g.73682011A>G | NCBI36 |
| NG_011690.1:g.220624A>G , LRG_741:g.220624A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11673A>G | ENSP00000507671.1:p.Ala3891= | |
| ENST00000682801.1:c.11167-809A>G | ENSP00000507862.1:n.11167-809A>G | |
| ENST00000682859.1:c.11673A>G | ENSP00000508222.1:p.Ala3891= | |
| ENST00000683791.1:c.4759A>G | ||
| ENST00000684460.1:c.8954A>G | ||
| ENST00000684548.1:c.11673A>G | ENSP00000507421.1:p.Ala3891= | |
| ENST00000684590.1:c.6120A>G | ENSP00000507376.1:p.Ala2040= | |
| ENST00000684656.1:c.9138A>G | ||
| ENST00000613296.6:c.12054A>G MANE Select | ENSP00000482968.1:p.Ala4018= | |
| ENST00000651057.1:c.2208A>G | ENSP00000498504.1:p.Ala736= | |
| ENST00000651434.1:c.3410A>G | ||
| ENST00000651750.1:c.1260+495A>G | ||
| ENST00000652487.1:c.3225A>G | ||
| ENST00000464408.3:n.229A>G | ||
| ENST00000484298.5:c.11928A>G | ENSP00000478155.1:p.Ala3976= | |
| ENST00000613296.4:c.12054A>G | ENSP00000482968.1:p.Ala4018= | |
| ENST00000620466.4:n.5857A>G | ||
| NM_015120.4:c.12057A>G , LRG_741t1:c.12057A>G | NP_055935.4:p.Ala4019= | |
| NM_001378454.1:c.12054A>G MANE Select | NP_001365383.1:p.Ala4018= |