Linked Data
ClinVar Variation Id:
649534
dbSNP Id:
rs1446554442
gnomAD v2:
19-1226591-A-G
gnomAD v3:
19-1226592-A-G
gnomAD v4:
19-1226592-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226592A>G , CM000681.2:g.1226592A>G | GRCh38 |
| NC_000019.9:g.1226591A>G , CM000681.1:g.1226591A>G | GRCh37 |
| NC_000019.8:g.1177591A>G | NCBI36 |
| NG_007460.2:g.42186A>G , LRG_319:g.42186A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2848A>G | ENSP00000490268.2:n.*2848A>G | |
| ENST00000585748.3:c.875A>G | ENSP00000477641.2:p.Lys292Arg | |
| ENST00000585851.2:c.1073A>G | ENSP00000467912.2:p.Lys358Arg | |
| ENST00000326873.12:c.1247A>G MANE Select | ENSP00000324856.6:p.Lys416Arg | |
| ENST00000326873.11:c.1247A>G | ENSP00000324856.6:p.Lys416Arg | |
| ENST00000585465.2:n.2980A>G | ||
| ENST00000586243.5:c.1246A>G | ENSP00000467240.2:p.Arg416Gly | |
| ENST00000589152.5:n.1945A>G | ||
| NM_000455.4:c.1247A>G , LRG_319t1:c.1247A>G | NP_000446.1:p.Lys416Arg | |
| XM_005259617.1:c.1242A>G | XP_005259674.1:p.Gln414= | |
| XM_011528209.1:c.1020A>G | XP_011526511.1:p.Gln340= | |
| XM_005259617.3:c.1242A>G | XP_005259674.1:p.Gln414= | |
| XM_011528209.2:c.1020A>G | XP_011526511.1:p.Gln340= | |
| XR_001753738.2:n.2053A>G | ||
| XR_001753740.2:n.2023A>G | ||
| NM_000455.5:c.1247A>G MANE Select | NP_000446.1:p.Lys416Arg |