Linked Data
ClinVar Variation Id:
348889
dbSNP Id:
rs533627398
gnomAD v2:
4-55095277-G-A
gnomAD v3:
4-54229110-G-A
gnomAD v4:
4-54229110-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54229110G>A , CM000666.2:g.54229110G>A | GRCh38 |
| NC_000004.11:g.55095277G>A , CM000666.1:g.55095277G>A | GRCh37 |
| NC_000004.10:g.54790034G>A | NCBI36 |
| NG_009250.1:g.5014G>A , LRG_309:g.5014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.9:c.-318G>A | ENSP00000257290.5:n.-318G>A | |
| ENST00000507166.5:c.1018-45815G>A | ENSP00000423325.1:n.1018-45815G>A | |
| NM_006206.4:c.-318G>A , LRG_309t1:c.-318G>A | NP_006197.1:n.-318G>A | |
| NM_001347827.1:c.-318G>A | NP_001334756.1:n.-318G>A | |
| NM_001347828.1:c.-321G>A | NP_001334757.1:n.-321G>A | |
| NM_006206.5:c.-318G>A | NP_006197.1:n.-318G>A |