Linked Data
ClinVar Variation Id:
194426
ClinVar RCV Id:
RCV002255313
dbSNP Id:
rs794727131
gnomAD v4:
10-43119592-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119592G>A , CM000672.2:g.43119592G>A | GRCh38 |
| NC_000010.10:g.43615040G>A , CM000672.1:g.43615040G>A | GRCh37 |
| NC_000010.9:g.42935046G>A | NCBI36 |
| NG_007489.1:g.47524G>A , LRG_518:g.47524G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.2058G>A | ENSP00000480088.2:p.Glu686= | |
| ENST00000683007.1:n.2028G>A | ||
| ENST00000683872.1:n.2019G>A | ||
| ENST00000340058.6:c.2454G>A | ENSP00000344798.4:p.Glu818= | |
| ENST00000355710.8:c.2454G>A MANE Select | ENSP00000347942.3:p.Glu818= | |
| ENST00000671844.1:c.*1048G>A | ENSP00000500541.1:n.*1048G>A | |
| ENST00000672389.1:c.*1048G>A | ENSP00000500252.1:n.*1048G>A | |
| ENST00000340058.5:c.2454G>A | ENSP00000344798.4:p.Glu818= | |
| ENST00000355710.7:c.2454G>A | ENSP00000347942.3:p.Glu818= | |
| ENST00000615310.4:c.1290-110G>A | ENSP00000480088.1:n.1290-110G>A | |
| NM_020630.4:c.2454G>A , LRG_518t2:c.2454G>A | NP_065681.1:p.Glu818= | |
| NM_020975.4:c.2454G>A , LRG_518t1:c.2454G>A | NP_066124.1:p.Glu818= | |
| XM_011540027.1:c.2454G>A | XP_011538329.1:p.Glu818= | |
| NM_001355216.1:c.1692G>A | NP_001342145.1:p.Glu564= | |
| NM_020630.5:c.2454G>A | NP_065681.1:p.Glu818= | |
| NM_020975.5:c.2454G>A | NP_066124.1:p.Glu818= | |
| NM_020975.6:c.2454G>A MANE Select | NP_066124.1:p.Glu818= | |
| NM_020630.6:c.2454G>A | NP_065681.1:p.Glu818= |