Linked Data
ClinVar Variation Id:
580338
ClinVar RCV Id:
RCV000703840
RCV000709118
RCV000708756
RCV001104665
RCV001104666
RCV001104667
RCV001104668
RCV002499266
dbSNP Id:
rs774983492
ExAC:
10:43610177 A / G
gnomAD v2:
10-43610177-A-G
gnomAD v4:
10-43114729-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114729A>G , CM000672.2:g.43114729A>G | GRCh38 |
| NC_000010.10:g.43610177A>G , CM000672.1:g.43610177A>G | GRCh37 |
| NC_000010.9:g.42930183A>G | NCBI36 |
| NG_007489.1:g.42661A>G , LRG_518:g.42661A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1733A>G | ENSP00000480088.2:p.Lys578Arg | |
| ENST00000683007.1:n.1703A>G | ||
| ENST00000683872.1:n.1694A>G | ||
| ENST00000340058.6:c.2129A>G | ENSP00000344798.4:p.Lys710Arg | |
| ENST00000355710.8:c.2129A>G MANE Select | ENSP00000347942.3:p.Lys710Arg | |
| ENST00000671844.1:c.*723A>G | ENSP00000500541.1:n.*723A>G | |
| ENST00000672389.1:c.*723A>G | ENSP00000500252.1:n.*723A>G | |
| ENST00000340058.5:c.2129A>G | ENSP00000344798.4:p.Lys710Arg | |
| ENST00000355710.7:c.2129A>G | ENSP00000347942.3:p.Lys710Arg | |
| ENST00000615310.4:c.1289+3497A>G | ENSP00000480088.1:n.1289+3497A>G | |
| NM_020630.4:c.2129A>G , LRG_518t2:c.2129A>G | NP_065681.1:p.Lys710Arg | |
| NM_020975.4:c.2129A>G , LRG_518t1:c.2129A>G | NP_066124.1:p.Lys710Arg | |
| XM_011540027.1:c.2129A>G | XP_011538329.1:p.Lys710Arg | |
| NM_001355216.1:c.1367A>G | NP_001342145.1:p.Lys456Arg | |
| NM_020630.5:c.2129A>G | NP_065681.1:p.Lys710Arg | |
| NM_020975.5:c.2129A>G | NP_066124.1:p.Lys710Arg | |
| NM_020975.6:c.2129A>G MANE Select | NP_066124.1:p.Lys710Arg | |
| NM_020630.6:c.2129A>G | NP_065681.1:p.Lys710Arg |