Linked Data
ClinVar Variation Id:
1653699
ClinVar RCV Id:
RCV002166173
dbSNP Id:
rs1310610193
gnomAD v2:
8-145639453-T-C
gnomAD v3:
8-144414069-T-C
gnomAD v4:
8-144414069-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414069T>C , CM000670.2:g.144414069T>C | GRCh38 |
| NC_000008.10:g.145639453T>C , CM000670.1:g.145639453T>C | GRCh37 |
| NC_000008.9:g.145610261T>C | NCBI36 |
| NG_012234.2:g.7822A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1176A>G MANE Select | ENSP00000301305.4:p.Glu392= | |
| ENST00000276833.9:c.1101A>G | ENSP00000276833.5:p.Glu367= | |
| ENST00000301305.7:c.1176A>G | ENSP00000301305.3:p.Glu392= | |
| ENST00000531789.1:n.13A>G | ||
| NM_017767.2:c.1101A>G | NP_060237.2:p.Glu367= | |
| NM_130849.3:c.1176A>G | NP_570901.2:p.Glu392= | |
| XM_006716599.1:c.1176A>G | XP_006716662.1:p.Glu392= | |
| XM_011517153.1:c.894A>G | XP_011515455.1:p.Glu298= | |
| XM_024447188.1:c.894A>G | XP_024302956.1:p.Glu298= | |
| XM_024447189.1:c.894A>G | XP_024302957.1:p.Glu298= | |
| NM_001374839.1:c.894A>G | NP_001361768.1:p.Glu298= | |
| NM_017767.3:c.1101A>G | NP_060237.3:p.Glu367= | |
| NM_130849.4:c.1176A>G MANE Select | NP_570901.3:p.Glu392= |