Linked Data
ClinVar Variation Id:
299905
dbSNP Id:
rs141460872
gnomAD v2:
10-43624047-A-G
gnomAD v3:
10-43128599-A-G
gnomAD v4:
10-43128599-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128599A>G , CM000672.2:g.43128599A>G | GRCh38 |
| NC_000010.10:g.43624047A>G , CM000672.1:g.43624047A>G | GRCh37 |
| NC_000010.9:g.42944053A>G | NCBI36 |
| NG_007489.1:g.56531A>G , LRG_518:g.56531A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*1845A>G | ENSP00000480088.2:n.*1845A>G | |
| ENST00000683007.1:n.4638A>G | ||
| ENST00000355710.8:c.*330A>G MANE Select | ENSP00000347942.3:n.*330A>G | |
| ENST00000355710.7:c.*330A>G | ENSP00000347942.3:n.*330A>G | |
| ENST00000615310.4:c.*1024A>G | ENSP00000480088.1:n.*1024A>G | |
| NM_020975.4:c.*330A>G , LRG_518t1:c.*330A>G | NP_066124.1:n.*330A>G | |
| XM_011540027.1:c.*16+314A>G | XP_011538329.1:n.*16+314A>G | |
| NM_020975.5:c.*330A>G | NP_066124.1:n.*330A>G | |
| NM_020975.6:c.*330A>G MANE Select | NP_066124.1:n.*330A>G |