Linked Data
ClinVar Variation Id:
421064
dbSNP Id:
rs1064794883
gnomAD v2:
19-1220484-T-G
gnomAD v3:
19-1220485-T-G
gnomAD v4:
19-1220485-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220485T>G , CM000681.2:g.1220485T>G | GRCh38 |
| NC_000019.9:g.1220484T>G , CM000681.1:g.1220484T>G | GRCh37 |
| NC_000019.8:g.1171484T>G | NCBI36 |
| NG_007460.2:g.36079T>G , LRG_319:g.36079T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.577T>G | ENSP00000490268.2:p.Ser193Ala | |
| ENST00000585748.3:c.205T>G | ENSP00000477641.2:p.Ser69Ala | |
| ENST00000585851.2:c.403T>G | ENSP00000467912.2:p.Ser135Ala | |
| ENST00000326873.12:c.577T>G MANE Select | ENSP00000324856.6:p.Ser193Ala | |
| ENST00000652231.1:c.577T>G | ENSP00000498804.1:p.Ser193Ala | |
| ENST00000326873.11:c.577T>G | ENSP00000324856.6:p.Ser193Ala | |
| ENST00000585851.1:c.403T>G | ENSP00000467912.1:p.Ser135Ala | |
| ENST00000586243.5:c.577T>G | ENSP00000467240.2:p.Ser193Ala | |
| ENST00000586358.5:n.400T>G | ||
| ENST00000589152.5:n.667T>G | ||
| ENST00000591133.2:n.473T>G | ||
| NM_000455.4:c.577T>G , LRG_319t1:c.577T>G | NP_000446.1:p.Ser193Ala | |
| XM_005259617.1:c.577T>G | XP_005259674.1:p.Ser193Ala | |
| XM_005259618.3:c.577T>G | XP_005259675.1:p.Ser193Ala | |
| XM_011528209.1:c.355T>G | XP_011526511.1:p.Ser119Ala | |
| XR_936204.1:n.1202T>G | ||
| XM_005259617.3:c.577T>G | XP_005259674.1:p.Ser193Ala | |
| XM_011528209.2:c.355T>G | XP_011526511.1:p.Ser119Ala | |
| XR_001753738.2:n.1202T>G | ||
| XR_001753739.1:n.1202T>G | ||
| XR_001753740.2:n.1202T>G | ||
| NM_000455.5:c.577T>G MANE Select | NP_000446.1:p.Ser193Ala |