Linked Data
ClinVar Variation Id:
376743
ClinVar RCV Id:
RCV002323584
dbSNP Id:
rs1057520040
PubMed:
PMID:10353780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1218449A>G , CM000681.2:g.1218449A>G | GRCh38 |
| NC_000019.9:g.1218448A>G , CM000681.1:g.1218448A>G | GRCh37 |
| NC_000019.8:g.1169448A>G | NCBI36 |
| NG_007460.2:g.34043A>G , LRG_319:g.34043A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585465.3:c.323A>G | ENSP00000490268.2:p.Lys108Arg | |
| ENST00000585748.3:c.-50A>G | ENSP00000477641.2:n.-50A>G | |
| ENST00000585851.2:c.291-1924A>G | ENSP00000467912.2:n.291-1924A>G | |
| ENST00000326873.12:c.323A>G MANE Select | ENSP00000324856.6:p.Lys108Arg | |
| ENST00000652231.1:c.323A>G | ENSP00000498804.1:p.Lys108Arg | |
| ENST00000326873.11:c.323A>G | ENSP00000324856.6:p.Lys108Arg | |
| ENST00000585748.2:c.-50A>G | ENSP00000477641.1:n.-50A>G | |
| ENST00000585851.1:c.291-1924A>G | ENSP00000467912.1:n.291-1924A>G | |
| ENST00000586243.5:c.323A>G | ENSP00000467240.2:p.Lys108Arg | |
| ENST00000586358.5:n.146A>G | ||
| ENST00000589152.5:n.413A>G | ||
| ENST00000593219.5:c.*148A>G | ENSP00000466610.1:n.*148A>G | |
| NM_000455.4:c.323A>G , LRG_319t1:c.323A>G | NP_000446.1:p.Lys108Arg | |
| XM_005259617.1:c.323A>G | XP_005259674.1:p.Lys108Arg | |
| XM_005259618.3:c.323A>G | XP_005259675.1:p.Lys108Arg | |
| XM_011528209.1:c.101A>G | XP_011526511.1:p.Lys34Arg | |
| XR_936204.1:n.948A>G | ||
| XM_005259617.3:c.323A>G | XP_005259674.1:p.Lys108Arg | |
| XM_011528209.2:c.101A>G | XP_011526511.1:p.Lys34Arg | |
| XR_001753738.2:n.948A>G | ||
| XR_001753739.1:n.948A>G | ||
| XR_001753740.2:n.948A>G | ||
| NM_000455.5:c.323A>G MANE Select | NP_000446.1:p.Lys108Arg |