Linked Data
ClinVar Variation Id:
8523
ClinVar RCV Id:
RCV001707508
dbSNP Id:
rs1137100
ExAC:
1:66036441 A / G
gnomAD v2:
1-66036441-A-G
gnomAD v3:
1-65570758-A-G
gnomAD v4:
1-65570758-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65570758A>G , CM000663.2:g.65570758A>G | GRCh38 |
| NC_000001.10:g.66036441A>G , CM000663.1:g.66036441A>G | GRCh37 |
| NC_000001.9:g.65809029A>G | NCBI36 |
| NG_015831.2:g.155194A>G , LRG_283:g.155194A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349533.11:c.326A>G MANE Select | ENSP00000330393.7:p.Lys109Arg | |
| ENST00000344610.12:c.326A>G | ENSP00000340884.8:p.Lys109Arg | |
| ENST00000349533.10:c.326A>G | ENSP00000330393.6:p.Lys109Arg | |
| ENST00000371058.1:c.326A>G | ENSP00000360097.1:p.Lys109Arg | |
| ENST00000371059.7:c.326A>G | ENSP00000360098.3:p.Lys109Arg | |
| ENST00000371060.7:c.326A>G | ENSP00000360099.3:p.Lys109Arg | |
| ENST00000406510.7:c.-295A>G | ENSP00000384025.3:n.-295A>G | |
| ENST00000462765.5:n.476A>G | ||
| ENST00000616738.4:c.326A>G | ENSP00000483390.1:p.Lys109Arg | |
| NM_001003679.3:c.326A>G , LRG_283t1:c.326A>G | NP_001003679.1:p.Lys109Arg | |
| NM_001003680.3:c.326A>G , LRG_283t2:c.326A>G | NP_001003680.1:p.Lys109Arg | |
| NM_001198687.1:c.326A>G | NP_001185616.1:p.Lys109Arg | |
| NM_001198688.1:c.326A>G , LRG_283t4:c.326A>G | NP_001185617.1:p.Lys109Arg | |
| NM_001198689.1:c.326A>G | NP_001185618.1:p.Lys109Arg | |
| NM_002303.5:c.326A>G , LRG_283t3:c.326A>G | NP_002294.2:p.Lys109Arg | |
| NM_001198687.2:c.326A>G | NP_001185616.1:p.Lys109Arg | |
| NM_002303.6:c.326A>G MANE Select | NP_002294.2:p.Lys109Arg | |
| NM_001198689.2:c.326A>G | NP_001185618.1:p.Lys109Arg |