Linked Data
ClinVar Variation Id:
1516716
ClinVar RCV Id:
RCV002040911
dbSNP Id:
rs2145404457
gnomAD v4:
19-1206933-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1206933A>G , CM000681.2:g.1206933A>G | GRCh38 |
| NC_000019.9:g.1206932A>G , CM000681.1:g.1206932A>G | GRCh37 |
| NC_000019.8:g.1157932A>G | NCBI36 |
| NG_007460.2:g.22527A>G , LRG_319:g.22527A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.20A>G | ENSP00000490268.2:p.Gln7Arg | |
| ENST00000585748.3:c.-82-11484A>G | ENSP00000477641.2:n.-82-11484A>G | |
| ENST00000585851.2:c.20A>G | ENSP00000467912.2:p.Gln7Arg | |
| ENST00000326873.12:c.20A>G MANE Select | ENSP00000324856.6:p.Gln7Arg | |
| ENST00000652231.1:c.20A>G | ENSP00000498804.1:p.Gln7Arg | |
| ENST00000326873.11:c.20A>G | ENSP00000324856.6:p.Gln7Arg | |
| ENST00000585748.2:c.-82-11484A>G | ENSP00000477641.1:n.-82-11484A>G | |
| ENST00000585851.1:c.20A>G | ENSP00000467912.1:p.Gln7Arg | |
| ENST00000586243.5:c.20A>G | ENSP00000467240.2:p.Gln7Arg | |
| ENST00000589152.5:n.110A>G | ||
| ENST00000593219.5:c.20A>G | ENSP00000466610.1:p.Gln7Arg | |
| NM_000455.4:c.20A>G , LRG_319t1:c.20A>G | NP_000446.1:p.Gln7Arg | |
| XM_005259617.1:c.20A>G | XP_005259674.1:p.Gln7Arg | |
| XM_005259618.3:c.20A>G | XP_005259675.1:p.Gln7Arg | |
| XM_011528209.1:c.-334A>G | XP_011526511.1:n.-334A>G | |
| XR_936204.1:n.645A>G | ||
| XM_005259617.3:c.20A>G | XP_005259674.1:p.Gln7Arg | |
| XM_011528209.2:c.-334A>G | XP_011526511.1:n.-334A>G | |
| XR_001753738.2:n.645A>G | ||
| XR_001753739.1:n.645A>G | ||
| XR_001753740.2:n.645A>G | ||
| NM_000455.5:c.20A>G MANE Select | NP_000446.1:p.Gln7Arg |