Linked Data
ClinVar Variation Id:
24931
ClinVar RCV Id:
RCV000021838
RCV000148771
RCV000567780
RCV001582493
RCV002496436
RCV002466411
RCV004018657
dbSNP Id:
rs143795581
gnomAD v3:
10-43114596-A-G
gnomAD v4:
10-43114596-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114596A>G , CM000672.2:g.43114596A>G | GRCh38 |
| NC_000010.10:g.43610044A>G , CM000672.1:g.43610044A>G | GRCh37 |
| NC_000010.9:g.42930050A>G | NCBI36 |
| NG_007489.1:g.42528A>G , LRG_518:g.42528A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1600A>G | ENSP00000480088.2:p.Lys534Glu | |
| ENST00000683007.1:n.1570A>G | ||
| ENST00000683872.1:n.1561A>G | ||
| ENST00000340058.6:c.1996A>G | ENSP00000344798.4:p.Lys666Glu | |
| ENST00000355710.8:c.1996A>G MANE Select | ENSP00000347942.3:p.Lys666Glu | |
| ENST00000671844.1:c.*590A>G | ENSP00000500541.1:n.*590A>G | |
| ENST00000672389.1:c.*590A>G | ENSP00000500252.1:n.*590A>G | |
| ENST00000340058.5:c.1996A>G | ENSP00000344798.4:p.Lys666Glu | |
| ENST00000355710.7:c.1996A>G | ENSP00000347942.3:p.Lys666Glu | |
| ENST00000615310.4:c.1289+3364A>G | ENSP00000480088.1:n.1289+3364A>G | |
| NM_020630.4:c.1996A>G , LRG_518t2:c.1996A>G | NP_065681.1:p.Lys666Glu | |
| NM_020975.4:c.1996A>G , LRG_518t1:c.1996A>G | NP_066124.1:p.Lys666Glu | |
| XM_011540027.1:c.1996A>G | XP_011538329.1:p.Lys666Glu | |
| NM_001355216.1:c.1234A>G | NP_001342145.1:p.Lys412Glu | |
| NM_020630.5:c.1996A>G | NP_065681.1:p.Lys666Glu | |
| NM_020975.5:c.1996A>G | NP_066124.1:p.Lys666Glu | |
| NM_020975.6:c.1996A>G MANE Select | NP_066124.1:p.Lys666Glu | |
| NM_020630.6:c.1996A>G | NP_065681.1:p.Lys666Glu |