Linked Data
ClinVar Variation Id:
216721
dbSNP Id:
rs774215008
ExAC:
10:43617439 C / G
gnomAD v2:
10-43617439-C-G
gnomAD v3:
10-43121991-C-G
gnomAD v4:
10-43121991-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43121991C>G , CM000672.2:g.43121991C>G | GRCh38 |
| NC_000010.10:g.43617439C>G , CM000672.1:g.43617439C>G | GRCh37 |
| NC_000010.9:g.42937445C>G | NCBI36 |
| NG_007489.1:g.49923C>G , LRG_518:g.49923C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2380C>G | ENSP00000480088.2:p.His794Asp | |
| ENST00000683007.1:n.2350C>G | ||
| ENST00000340058.6:c.2776C>G | ENSP00000344798.4:p.His926Asp | |
| ENST00000355710.8:c.2776C>G MANE Select | ENSP00000347942.3:p.His926Asp | |
| ENST00000671844.1:c.*1370C>G | ENSP00000500541.1:n.*1370C>G | |
| ENST00000672389.1:c.*1370C>G | ENSP00000500252.1:n.*1370C>G | |
| ENST00000340058.5:c.2776C>G | ENSP00000344798.4:p.His926Asp | |
| ENST00000355710.7:c.2776C>G | ENSP00000347942.3:p.His926Asp | |
| ENST00000615310.4:c.*125C>G | ENSP00000480088.1:n.*125C>G | |
| NM_020630.4:c.2776C>G , LRG_518t2:c.2776C>G | NP_065681.1:p.His926Asp | |
| NM_020975.4:c.2776C>G , LRG_518t1:c.2776C>G | NP_066124.1:p.His926Asp | |
| XM_011540027.1:c.2776C>G | XP_011538329.1:p.His926Asp | |
| NM_001355216.1:c.2014C>G | NP_001342145.1:p.His672Asp | |
| NM_020630.5:c.2776C>G | NP_065681.1:p.His926Asp | |
| NM_020975.5:c.2776C>G | NP_066124.1:p.His926Asp | |
| NM_020975.6:c.2776C>G MANE Select | NP_066124.1:p.His926Asp | |
| NM_020630.6:c.2776C>G | NP_065681.1:p.His926Asp |