Linked Data
ClinVar Variation Id:
2568338
ClinVar RCV Id:
RCV003283602
dbSNP Id:
rs894525969
gnomAD v4:
10-43118454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43118454A>G , CM000672.2:g.43118454A>G | GRCh38 |
| NC_000010.10:g.43613902A>G , CM000672.1:g.43613902A>G | GRCh37 |
| NC_000010.9:g.42933908A>G | NCBI36 |
| NG_007489.1:g.46386A>G , LRG_518:g.46386A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1970A>G | ENSP00000480088.2:p.Lys657Arg | |
| ENST00000683007.1:n.1940A>G | ||
| ENST00000683872.1:n.1931A>G | ||
| ENST00000340058.6:c.2366A>G | ENSP00000344798.4:p.Lys789Arg | |
| ENST00000355710.8:c.2366A>G MANE Select | ENSP00000347942.3:p.Lys789Arg | |
| ENST00000671844.1:c.*960A>G | ENSP00000500541.1:n.*960A>G | |
| ENST00000672389.1:c.*960A>G | ENSP00000500252.1:n.*960A>G | |
| ENST00000340058.5:c.2366A>G | ENSP00000344798.4:p.Lys789Arg | |
| ENST00000355710.7:c.2366A>G | ENSP00000347942.3:p.Lys789Arg | |
| ENST00000615310.4:c.1290-1248A>G | ENSP00000480088.1:n.1290-1248A>G | |
| NM_020630.4:c.2366A>G , LRG_518t2:c.2366A>G | NP_065681.1:p.Lys789Arg | |
| NM_020975.4:c.2366A>G , LRG_518t1:c.2366A>G | NP_066124.1:p.Lys789Arg | |
| XM_011540027.1:c.2366A>G | XP_011538329.1:p.Lys789Arg | |
| NM_001355216.1:c.1604A>G | NP_001342145.1:p.Lys535Arg | |
| NM_020630.5:c.2366A>G | NP_065681.1:p.Lys789Arg | |
| NM_020975.5:c.2366A>G | NP_066124.1:p.Lys789Arg | |
| NM_020975.6:c.2366A>G MANE Select | NP_066124.1:p.Lys789Arg | |
| NM_020630.6:c.2366A>G | NP_065681.1:p.Lys789Arg |