Linked Data
ClinVar Variation Id:
372080
dbSNP Id:
rs774347808
ExAC:
10:43622125 C / G
gnomAD v2:
10-43622125-C-G
gnomAD v3:
10-43126677-C-G
gnomAD v4:
10-43126677-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43126677C>G , CM000672.2:g.43126677C>G | GRCh38 |
| NC_000010.10:g.43622125C>G , CM000672.1:g.43622125C>G | GRCh37 |
| NC_000010.9:g.42942131C>G | NCBI36 |
| NG_007489.1:g.54609C>G , LRG_518:g.54609C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2746C>G | ENSP00000480088.2:p.Leu916Val | |
| ENST00000683007.1:n.2716C>G | ||
| ENST00000340058.6:c.3142C>G | ENSP00000344798.4:p.Leu1048Val | |
| ENST00000355710.8:c.3142C>G MANE Select | ENSP00000347942.3:p.Leu1048Val | |
| ENST00000671844.1:c.*1736C>G | ENSP00000500541.1:n.*1736C>G | |
| ENST00000672389.1:c.*1736C>G | ENSP00000500252.1:n.*1736C>G | |
| ENST00000340058.5:c.3142C>G | ENSP00000344798.4:p.Leu1048Val | |
| ENST00000355710.7:c.3142C>G | ENSP00000347942.3:p.Leu1048Val | |
| ENST00000615310.4:c.*491C>G | ENSP00000480088.1:n.*491C>G | |
| NM_020630.4:c.3142C>G , LRG_518t2:c.3142C>G | NP_065681.1:p.Leu1048Val | |
| NM_020975.4:c.3142C>G , LRG_518t1:c.3142C>G | NP_066124.1:p.Leu1048Val | |
| XM_011540027.1:c.3142C>G | XP_011538329.1:p.Leu1048Val | |
| NM_001355216.1:c.2380C>G | NP_001342145.1:p.Leu794Val | |
| NM_020630.5:c.3142C>G | NP_065681.1:p.Leu1048Val | |
| NM_020975.5:c.3142C>G | NP_066124.1:p.Leu1048Val | |
| NM_020975.6:c.3142C>G MANE Select | NP_066124.1:p.Leu1048Val | |
| NM_020630.6:c.3142C>G | NP_065681.1:p.Leu1048Val |