Linked Data
ClinVar Variation Id:
299902
dbSNP Id:
rs558718557
gnomAD v2:
10-43623801-G-A
gnomAD v3:
10-43128353-G-A
gnomAD v4:
10-43128353-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128353G>A , CM000672.2:g.43128353G>A | GRCh38 |
| NC_000010.10:g.43623801G>A , CM000672.1:g.43623801G>A | GRCh37 |
| NC_000010.9:g.42943807G>A | NCBI36 |
| NG_007489.1:g.56285G>A , LRG_518:g.56285G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*1599G>A | ENSP00000480088.2:n.*1599G>A | |
| ENST00000683007.1:n.4392G>A | ||
| ENST00000355710.8:c.*84G>A MANE Select | ENSP00000347942.3:n.*84G>A | |
| ENST00000355710.7:c.*84G>A | ENSP00000347942.3:n.*84G>A | |
| ENST00000615310.4:c.*778G>A | ENSP00000480088.1:n.*778G>A | |
| NM_020975.4:c.*84G>A , LRG_518t1:c.*84G>A | NP_066124.1:n.*84G>A | |
| XM_011540027.1:c.*16+68G>A | XP_011538329.1:n.*16+68G>A | |
| NM_020975.5:c.*84G>A | NP_066124.1:n.*84G>A | |
| NM_020975.6:c.*84G>A MANE Select | NP_066124.1:n.*84G>A |