Linked Data
ClinVar Variation Id:
43511
dbSNP Id:
rs111033316
ExAC:
7:107336481 A / G
gnomAD v2:
7-107336481-A-G
gnomAD v3:
7-107696036-A-G
gnomAD v4:
7-107696036-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107696036A>G , CM000669.2:g.107696036A>G | GRCh38 |
| NC_000007.13:g.107336481A>G , CM000669.1:g.107336481A>G | GRCh37 |
| NC_000007.12:g.107123717A>G | NCBI36 |
| NG_008489.1:g.40402A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1541A>G MANE Select | ENSP00000494017.1:p.Gln514Arg | |
| ENST00000644846.1:c.252A>G | ||
| ENST00000265715.7:c.1541A>G | ENSP00000265715.3:p.Gln514Arg | |
| ENST00000477350.5:n.388A>G | ||
| ENST00000480841.5:n.390A>G | ||
| ENST00000497446.5:n.556A>G | ||
| NM_000441.1:c.1541A>G | NP_000432.1:p.Gln514Arg | |
| XM_005250425.1:c.1541A>G | XP_005250482.1:p.Gln514Arg | |
| XM_005250425.2:c.1541A>G | XP_005250482.1:p.Gln514Arg | |
| XM_017012318.1:c.1463A>G | XP_016867807.1:p.Gln488Arg | |
| NM_000441.2:c.1541A>G MANE Select | NP_000432.1:p.Gln514Arg |