Linked Data
ClinVar Variation Id:
141717
dbSNP Id:
rs587781959
gnomAD v4:
10-87863539-G-A
ERepo:
CA000640/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863539G>A , CM000672.2:g.87863539G>A | GRCh38 |
| NC_000010.10:g.89623296G>A , CM000672.1:g.89623296G>A | GRCh37 |
| NC_000010.9:g.89613276G>A | NCBI36 |
| NG_007466.2:g.5102G>A , LRG_311:g.5102G>A | |
| NG_033079.1:g.4899C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+897G>A | ENSP00000516674.1:n.-17+897G>A | |
| ENST00000688308.1:c.-17+426G>A | ENSP00000508752.1:n.-17+426G>A | |
| ENST00000693560.1:c.-411G>A | ENSP00000509861.1:n.-411G>A | |
| ENST00000371953.7:c.-931G>A | ENSP00000361021.3:n.-931G>A | |
| ENST00000610634.1:c.-1033G>A | ENSP00000477517.1:n.-1033G>A | |
| NM_000314.5:c.-930G>A | NP_000305.3:n.-930G>A | |
| NM_000314.6:c.-930G>A | NP_000305.3:n.-930G>A | |
| NM_001304717.2:c.-411G>A | NP_001291646.2:n.-411G>A | |
| NM_001304718.1:c.-1635G>A | NP_001291647.1:n.-1635G>A |